Linked Data
ClinVar Variation Id:
161477
ClinVar RCV Id:
RCV000149011
dbSNP Id:
rs193920961
ExAC:
1:247978691 G / A
gnomAD v2:
1-247978691-G-A
gnomAD v3:
1-247815389-G-A
gnomAD v4:
1-247815389-G-A
COSMIC:
COSM1178695
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247815389G>A , CM000663.2:g.247815389G>A | GRCh38 |
| NC_000001.10:g.247978691G>A , CM000663.1:g.247978691G>A | GRCh37 |
| NC_000001.9:g.246045314G>A | NCBI36 |
| NG_053131.1:g.5470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641093.1:c.341C>T MANE Select | ENSP00000493024.1:p.Thr114Met | |
| ENST00000357627.1:c.341C>T | ENSP00000350248.1:p.Thr114Met | |
| NM_001001966.1:c.341C>T | NP_001001966.1:p.Thr114Met | |
| XM_006711764.2:c.341C>T | XP_006711827.1:p.Thr114Met | |
| XM_011544171.1:c.422C>T | XP_011542473.1:p.Thr141Met | |
| XM_011544172.1:c.410C>T | XP_011542474.1:p.Thr137Met | |
| NM_001001966.2:c.341C>T MANE Select | NP_001001966.1:p.Thr114Met |