Linked Data
ClinVar Variation Id:
133787
dbSNP Id:
rs201780608
ExAC:
7:2969684 G / A
gnomAD v2:
7-2969684-G-A
gnomAD v3:
7-2930050-G-A
gnomAD v4:
7-2930050-G-A
COSMIC:
COSM1580647
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2930050G>A , CM000669.2:g.2930050G>A | GRCh38 |
| NC_000007.13:g.2969684G>A , CM000669.1:g.2969684G>A | GRCh37 |
| NC_000007.12:g.2936210G>A | NCBI36 |
| NG_027759.1:g.118826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698637.1:n.1921C>T | ||
| ENST00000396946.9:c.1595C>T MANE Select | ENSP00000380150.4:p.Thr532Met | |
| ENST00000355508.3:c.11C>T | ENSP00000347695.3:p.Thr4Met | |
| ENST00000396946.8:c.1595C>T | ENSP00000380150.4:p.Thr532Met | |
| NM_032415.5:c.1595C>T | NP_115791.3:p.Thr532Met | |
| XM_011515585.1:c.1595C>T | XP_011513887.1:p.Thr532Met | |
| XM_011515586.1:c.1595C>T | XP_011513888.1:p.Thr532Met | |
| XM_011515587.1:c.1595C>T | XP_011513889.1:p.Thr532Met | |
| NM_001324281.1:c.1595C>T | NP_001311210.1:p.Thr532Met | |
| XM_011515586.2:c.1595C>T | XP_011513888.1:p.Thr532Met | |
| XM_011515587.2:c.1595C>T | XP_011513889.1:p.Thr532Met | |
| XR_001744885.1:n.1994C>T | ||
| NM_001324281.2:c.1595C>T | NP_001311210.1:p.Thr532Met | |
| NM_032415.6:c.1595C>T | NP_115791.3:p.Thr532Met | |
| NM_001324281.3:c.1595C>T | NP_001311210.1:p.Thr532Met | |
| NM_032415.7:c.1595C>T MANE Select | NP_115791.3:p.Thr532Met |