UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
17087
ClinVar RCV Id:
RCV000018616
RCV000075801
RCV000115485
RCV000202205
RCV000524311
RCV001093685
RCV001249951
RCV001267883
RCV003137535
RCV003149572
dbSNP Id:
rs63751615
ExAC:
3:37053589 C / T
gnomAD v2:
3-37053589-C-T
gnomAD v4:
3-37012098-C-T
COSMIC:
COSM27170
CIViC:
CA011496
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37012098C>T , CM000665.2:g.37012098C>T | GRCh38 |
| NC_000003.11:g.37053589C>T , CM000665.1:g.37053589C>T | GRCh37 |
| NC_000003.10:g.37028593C>T | NCBI36 |
| NG_007109.2:g.23749C>T , LRG_216:g.23749C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.676C>T | ENSP00000416476.2:p.Arg226Ter | |
| ENST00000429117.6:c.382C>T | ENSP00000407019.2:p.Arg128Ter | |
| ENST00000450420.6:c.676C>T | ENSP00000393006.2:p.Arg226Ter | |
| ENST00000456676.7:c.676C>T | ENSP00000416687.3:p.Arg226Ter | |
| ENST00000458009.6:c.676C>T | ENSP00000411066.2:p.Arg226Ter | |
| ENST00000492474.6:c.-48C>T | ENSP00000518393.1:n.-48C>T | |
| ENST00000616768.6:c.676C>T | ENSP00000480669.3:p.Arg226Ter | |
| ENST00000673673.2:c.676C>T | ENSP00000500979.2:p.Arg226Ter | |
| ENST00000231790.8:c.676C>T MANE Select | ENSP00000231790.3:p.Arg226Ter | |
| ENST00000413212.2:c.-48C>T | ENSP00000400844.2:n.-48C>T | |
| ENST00000432299.6:c.*756C>T | ENSP00000416783.1:n.*756C>T | |
| ENST00000441265.6:c.-48C>T | ENSP00000398392.2:n.-48C>T | |
| ENST00000442249.6:n.691C>T | ||
| ENST00000447829.6:c.313C>T | ENSP00000399329.2:p.Arg105Ter | |
| ENST00000539477.6:c.-48C>T | ENSP00000443665.1:n.-48C>T | |
| ENST00000673673.1:c.629C>T | ||
| ENST00000673713.1:n.707C>T | ||
| ENST00000673715.1:c.676C>T | ENSP00000501301.1:p.Arg226Ter | |
| ENST00000673897.1:c.*468C>T | ENSP00000501109.1:n.*468C>T | |
| ENST00000673899.1:c.676C>T | ENSP00000501030.1:p.Arg226Ter | |
| ENST00000673947.1:c.*816C>T | ENSP00000501304.1:n.*816C>T | |
| ENST00000673972.1:c.*554C>T | ENSP00000501281.1:n.*554C>T | |
| ENST00000673990.1:n.661C>T | ||
| ENST00000674019.1:c.-48C>T | ENSP00000501081.1:n.-48C>T | |
| ENST00000674107.1:n.618C>T | ||
| ENST00000674111.1:c.676C>T | ENSP00000501162.1:p.Arg226Ter | |
| ENST00000231790.6:c.676C>T | ENSP00000231790.2:p.Arg226Ter | |
| ENST00000432299.5:c.*756C>T | ENSP00000416783.1:n.*756C>T | |
| ENST00000435176.5:c.382C>T | ENSP00000402564.1:p.Arg128Ter | |
| ENST00000441265.5:c.-48C>T | ENSP00000398392.1:n.-48C>T | |
| ENST00000447829.5:c.57C>T | ||
| ENST00000455445.6:c.-48C>T | ENSP00000398272.2:n.-48C>T | |
| ENST00000456676.6:c.651C>T | ||
| ENST00000457004.5:c.*455C>T | ENSP00000407773.1:n.*455C>T | |
| ENST00000458009.5:c.17C>T | ||
| ENST00000458205.6:c.-48C>T | ENSP00000402667.2:n.-48C>T | |
| ENST00000536378.5:c.-48C>T | ENSP00000444286.2:n.-48C>T | |
| ENST00000539477.5:c.-48C>T | ENSP00000443665.1:n.-48C>T | |
| NM_000249.3:c.676C>T , LRG_216t1:c.676C>T | NP_000240.1:p.Arg226Ter | |
| NM_001167617.1:c.382C>T | NP_001161089.1:p.Arg128Ter | |
| NM_001167618.1:c.-48C>T | NP_001161090.1:n.-48C>T | |
| NM_001167619.1:c.-48C>T | NP_001161091.1:n.-48C>T | |
| NM_001258271.1:c.676C>T | NP_001245200.1:p.Arg226Ter | |
| NM_001258273.1:c.-48C>T | NP_001245202.1:n.-48C>T | |
| NM_001258274.1:c.-48C>T | NP_001245203.1:n.-48C>T | |
| XM_005265161.1:c.676C>T | XP_005265218.1:p.Arg226Cys | |
| XM_005265163.1:c.-48C>T | XP_005265220.1:n.-48C>T | |
| XM_005265164.1:c.-48C>T | XP_005265221.1:n.-48C>T | |
| XM_005265166.1:c.-254C>T | XP_005265223.1:n.-254C>T | |
| XM_011533727.1:c.-151C>T | XP_011532029.1:n.-151C>T | |
| NM_001167617.2:c.382C>T | NP_001161089.1:p.Arg128Ter | |
| NM_001167618.2:c.-48C>T | NP_001161090.1:n.-48C>T | |
| NM_001167619.2:c.-48C>T | NP_001161091.1:n.-48C>T | |
| NM_001258274.2:c.-48C>T | NP_001245203.1:n.-48C>T | |
| NM_001354615.1:c.-48C>T | NP_001341544.1:n.-48C>T | |
| NM_001354616.1:c.-48C>T | NP_001341545.1:n.-48C>T | |
| NM_001354617.1:c.-48C>T | NP_001341546.1:n.-48C>T | |
| NM_001354618.1:c.-48C>T | NP_001341547.1:n.-48C>T | |
| NM_001354619.1:c.-48C>T | NP_001341548.1:n.-48C>T | |
| NM_001354620.1:c.382C>T | NP_001341549.1:p.Arg128Ter | |
| NM_001354621.1:c.-141C>T | NP_001341550.1:n.-141C>T | |
| NM_001354622.1:c.-254C>T | NP_001341551.1:n.-254C>T | |
| NM_001354623.1:c.-254C>T | NP_001341552.1:n.-254C>T | |
| NM_001354624.1:c.-151C>T | NP_001341553.1:n.-151C>T | |
| NM_001354625.1:c.-151C>T | NP_001341554.1:n.-151C>T | |
| NM_001354626.1:c.-151C>T | NP_001341555.1:n.-151C>T | |
| NM_001354627.1:c.-151C>T | NP_001341556.1:n.-151C>T | |
| NM_001354628.1:c.676C>T | NP_001341557.1:p.Arg226Ter | |
| NM_001354629.1:c.577C>T | NP_001341558.1:p.Arg193Ter | |
| NM_001354630.1:c.676C>T | NP_001341559.1:p.Arg226Ter | |
| XM_005265161.2:c.676C>T | XP_005265218.1:p.Arg226Cys | |
| XM_017006450.2:c.-141C>T | XP_016861939.1:n.-141C>T | |
| NM_000249.4:c.676C>T MANE Select | NP_000240.1:p.Arg226Ter | |
| NM_001167617.3:c.382C>T | NP_001161089.1:p.Arg128Ter | |
| NM_001167618.3:c.-48C>T | NP_001161090.1:n.-48C>T | |
| NM_001167619.3:c.-48C>T | NP_001161091.1:n.-48C>T | |
| NM_001258271.2:c.676C>T | NP_001245200.1:p.Arg226Ter | |
| NM_001258273.2:c.-48C>T | NP_001245202.1:n.-48C>T | |
| NM_001258274.3:c.-48C>T | NP_001245203.1:n.-48C>T | |
| NM_001354615.2:c.-48C>T | NP_001341544.1:n.-48C>T | |
| NM_001354616.2:c.-48C>T | NP_001341545.1:n.-48C>T | |
| NM_001354617.2:c.-48C>T | NP_001341546.1:n.-48C>T | |
| NM_001354618.2:c.-48C>T | NP_001341547.1:n.-48C>T | |
| NM_001354619.2:c.-48C>T | NP_001341548.1:n.-48C>T | |
| NM_001354620.2:c.382C>T | NP_001341549.1:p.Arg128Ter | |
| NM_001354621.2:c.-141C>T | NP_001341550.1:n.-141C>T | |
| NM_001354622.2:c.-254C>T | NP_001341551.1:n.-254C>T | |
| NM_001354623.2:c.-254C>T | NP_001341552.1:n.-254C>T | |
| NM_001354624.2:c.-151C>T | NP_001341553.1:n.-151C>T | |
| NM_001354625.2:c.-151C>T | NP_001341554.1:n.-151C>T | |
| NM_001354626.2:c.-151C>T | NP_001341555.1:n.-151C>T | |
| NM_001354627.2:c.-151C>T | NP_001341556.1:n.-151C>T | |
| NM_001354628.2:c.676C>T | NP_001341557.1:p.Arg226Ter | |
| NM_001354629.2:c.577C>T | NP_001341558.1:p.Arg193Ter | |
| NM_001354630.2:c.676C>T | NP_001341559.1:p.Arg226Ter |