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:
381598
ClinVar RCV Id:
RCV000440624
dbSNP Id:
rs1057521092
gnomAD v4:
7-44145651-C-T
ERepo:
CA16605802/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145651C>T , CM000669.2:g.44145651C>T | GRCh38 |
| NC_000007.13:g.44185250C>T , CM000669.1:g.44185250C>T | GRCh37 |
| NC_000007.12:g.44151775C>T | NCBI36 |
| NG_008847.1:g.48773G>A | |
| NG_008847.2:g.57520G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*1097G>A | ENSP00000379142.4:n.*1097G>A | |
| ENST00000616242.5:c.*219G>A | ENSP00000482149.2:n.*219G>A | |
| ENST00000683378.1:n.325G>A | ||
| ENST00000336642.9:c.133G>A | ENSP00000338009.5:p.Val45Met | |
| ENST00000345378.7:c.1102G>A | ENSP00000223366.2:p.Val368Met | |
| ENST00000403799.8:c.1099G>A MANE Select | ENSP00000384247.3:p.Val367Met | |
| ENST00000671824.1:c.1162G>A | ENSP00000500264.1:p.Val388Met | |
| ENST00000672743.1:n.111G>A | ||
| ENST00000673284.1:c.1099G>A | ENSP00000499852.1:p.Val367Met | |
| ENST00000336642.8:c.151G>A | ENSP00000338009.4:p.Val51Met | |
| ENST00000345378.6:c.1102G>A | ENSP00000223366.2:p.Val368Met | |
| ENST00000395796.7:c.1096G>A | ENSP00000379142.3:p.Val366Met | |
| ENST00000403799.7:c.1099G>A | ENSP00000384247.3:p.Val367Met | |
| ENST00000437084.1:c.1048G>A | ENSP00000402840.1:p.Val350Met | |
| ENST00000459642.1:n.479G>A | ||
| ENST00000473353.1:n.397G>A | ||
| ENST00000616242.4:c.1096G>A | ENSP00000482149.1:p.Val366Met | |
| NM_000162.3:c.1099G>A | NP_000153.1:p.Val367Met | |
| NM_033507.1:c.1102G>A | NP_277042.1:p.Val368Met | |
| NM_033508.1:c.1096G>A | NP_277043.1:p.Val366Met | |
| NM_000162.4:c.1099G>A | NP_000153.1:p.Val367Met | |
| NM_001354800.1:c.1099G>A | NP_001341729.1:p.Val367Met | |
| NM_001354801.1:c.88G>A | NP_001341730.1:p.Val30Met | |
| NM_001354802.1:c.-42G>A | NP_001341731.1:n.-42G>A | |
| NM_001354803.1:c.133G>A | NP_001341732.1:p.Val45Met | |
| NM_033507.2:c.1102G>A | NP_277042.1:p.Val368Met | |
| NM_033508.2:c.1096G>A | NP_277043.1:p.Val366Met | |
| XM_024446707.1:c.-42G>A | XP_024302475.1:n.-42G>A | |
| NM_000162.5:c.1099G>A MANE Select | NP_000153.1:p.Val367Met | |
| NM_033507.3:c.1102G>A | NP_277042.1:p.Val368Met | |
| NM_033508.3:c.1096G>A | NP_277043.1:p.Val366Met | |
| NM_001354803.2:c.133G>A | NP_001341732.1:p.Val45Met |