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:
7819
ClinVar RCV Id:
RCV000008263
RCV000008265
RCV000078615
RCV000132187
RCV000199099
RCV000424529
RCV000443514
dbSNP Id:
rs121909224
ExAC:
10:89692904 C / T
gnomAD v2:
10-89692904-C-T
gnomAD v4:
10-87933147-C-T
COSMIC:
COSM5152
CIViC:
CA000433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933147C>T , CM000672.2:g.87933147C>T | GRCh38 |
| NC_000010.10:g.89692904C>T , CM000672.1:g.89692904C>T | GRCh37 |
| NC_000010.9:g.89682884C>T | NCBI36 |
| NG_007466.2:g.74709C>T , LRG_311:g.74709C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.388C>T | ENSP00000514759.2:p.Arg130Ter | |
| ENST00000710265.1:c.388C>T | ENSP00000518161.1:p.Arg130Ter | |
| ENST00000472832.3:c.388C>T | ENSP00000483066.2:p.Arg130Ter | |
| ENST00000688158.2:n.1123C>T | ||
| ENST00000688922.2:c.*218C>T | ENSP00000508742.2:n.*218C>T | |
| ENST00000700021.1:c.343C>T | ENSP00000514757.1:p.Arg115Ter | |
| ENST00000700022.1:c.388C>T | ENSP00000514758.1:p.Arg130Ter | |
| ENST00000700029.1:c.222C>T | ||
| ENST00000706954.1:c.388C>T | ENSP00000516674.1:p.Arg130Ter | |
| ENST00000706955.1:c.*423C>T | ENSP00000516675.1:n.*423C>T | |
| ENST00000686459.1:c.388C>T | ENSP00000508909.1:p.Arg130Ter | |
| ENST00000688158.1:c.*499C>T | ENSP00000509254.1:n.*499C>T | |
| ENST00000688308.1:c.388C>T | ENSP00000508752.1:p.Arg130Ter | |
| ENST00000688922.1:c.309C>T | ||
| ENST00000693560.1:c.907C>T | ENSP00000509861.1:p.Arg303Ter | |
| ENST00000371953.8:c.388C>T MANE Select | ENSP00000361021.3:p.Arg130Ter | |
| ENST00000371953.7:c.388C>T | ENSP00000361021.3:p.Arg130Ter | |
| ENST00000498703.1:n.214C>T | ||
| ENST00000610634.1:c.286C>T | ENSP00000477517.1:p.Arg96Ter | |
| NM_000314.5:c.388C>T | NP_000305.3:p.Arg130Ter | |
| NM_000314.6:c.388C>T | NP_000305.3:p.Arg130Ter | |
| NM_001304717.2:c.907C>T | NP_001291646.2:p.Arg303Ter | |
| NM_001304718.1:c.-363C>T | NP_001291647.1:n.-363C>T | |
| XM_006717926.2:c.343C>T | XP_006717989.1:p.Arg115Ter | |
| XM_011539981.1:c.388C>T | XP_011538283.1:p.Arg130Ter | |
| XM_011539982.1:c.292C>T | XP_011538284.1:p.Arg98Ter | |
| XR_945789.1:n.1100C>T | ||
| XR_945790.1:n.1100C>T | ||
| XR_945791.1:n.1100C>T | ||
| NM_000314.7:c.388C>T | NP_000305.3:p.Arg130Ter | |
| NM_001304717.5:c.907C>T | NP_001291646.4:p.Arg303Ter | |
| NM_001304718.2:c.-363C>T | NP_001291647.1:n.-363C>T | |
| NM_000314.8:c.388C>T MANE Select | NP_000305.3:p.Arg130Ter |