Linked Data
ClinVar Variation Id:
2157876
ClinVar RCV Id:
RCV003078320
dbSNP Id:
rs202057710
ExAC:
7:92147475 G / A
gnomAD v2:
7-92147475-G-A
gnomAD v3:
7-92518161-G-A
gnomAD v4:
7-92518161-G-A
COSMIC:
COSM1452845
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518161G>A , CM000669.2:g.92518161G>A | GRCh38 |
| NC_000007.13:g.92147475G>A , CM000669.1:g.92147475G>A | GRCh37 |
| NC_000007.12:g.91985411G>A | NCBI36 |
| NG_008341.1:g.15371C>T | |
| NG_008341.2:g.15371C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.452C>T MANE Select | ENSP00000248633.4:p.Thr151Met | |
| ENST00000248633.8:c.452C>T | ENSP00000248633.4:p.Thr151Met | |
| ENST00000428214.5:c.452C>T | ENSP00000394413.1:p.Thr151Met | |
| ENST00000438045.5:c.273+3941C>T | ENSP00000410438.1:n.273+3941C>T | |
| ENST00000484913.5:n.491C>T | ||
| NM_000466.2:c.452C>T | NP_000457.1:p.Thr151Met | |
| NM_001282677.1:c.452C>T | NP_001269606.1:p.Thr151Met | |
| NM_001282678.1:c.-173C>T | NP_001269607.1:n.-173C>T | |
| XR_242246.3:n.548C>T | ||
| XR_242246.5:n.499C>T | ||
| NM_000466.3:c.452C>T MANE Select | NP_000457.1:p.Thr151Met | |
| NM_001282677.2:c.452C>T | NP_001269606.1:p.Thr151Met | |
| NM_001282678.2:c.-173C>T | NP_001269607.1:n.-173C>T |