Linked Data
ClinVar Variation Id:
38878
dbSNP Id:
rs202247820
gnomAD v2:
3-136047696-C-T
gnomAD v3:
3-136328854-C-T
gnomAD v4:
3-136328854-C-T
COSMIC:
COSM4963912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136328854C>T , CM000665.2:g.136328854C>T | GRCh38 |
| NC_000003.11:g.136047696C>T , CM000665.1:g.136047696C>T | GRCh37 |
| NC_000003.10:g.137530386C>T | NCBI36 |
| NG_008939.1:g.83530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1495C>T MANE Select | ENSP00000251654.4:p.Arg499Ter | |
| ENST00000251654.8:c.1495C>T | ENSP00000251654.4:p.Arg499Ter | |
| ENST00000462637.5:c.1426C>T | ENSP00000420391.1:p.Arg476Ter | |
| ENST00000466072.5:c.1555C>T | ENSP00000420158.1:p.Arg519Ter | |
| ENST00000468777.5:c.1588C>T | ENSP00000419129.1:p.Arg530Ter | |
| ENST00000469217.5:c.1555C>T | ENSP00000419027.1:p.Arg519Ter | |
| ENST00000471595.5:c.1495C>T | ENSP00000417549.1:p.Arg499Ter | |
| ENST00000473073.1:n.1696C>T | ||
| ENST00000478469.5:c.885-5426C>T | ENSP00000420759.1:n.885-5426C>T | |
| ENST00000482086.5:c.1147C>T | ENSP00000417253.1:p.Arg383Ter | |
| ENST00000483687.5:c.1438C>T | ENSP00000420639.1:p.Arg480Ter | |
| ENST00000484181.5:c.*176C>T | ENSP00000417937.1:n.*176C>T | |
| ENST00000490504.5:c.1324C>T | ENSP00000418307.1:p.Arg442Ter | |
| NM_000532.4:c.1495C>T | NP_000523.2:p.Arg499Ter | |
| NM_001178014.1:c.1555C>T | NP_001171485.1:p.Arg519Ter | |
| NM_000532.5:c.1495C>T MANE Select | NP_000523.2:p.Arg499Ter | |
| NM_001178014.2:c.1555C>T | NP_001171485.1:p.Arg519Ter |