Linked Data
ClinVar Variation Id:
127101
dbSNP Id:
rs2808001
ExAC:
6:3154692 G / A
gnomAD v2:
6-3154692-G-A
gnomAD v3:
6-3154458-G-A
gnomAD v4:
6-3154458-G-A
PubMed:
PMID:24702957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154458G>A , CM000668.2:g.3154458G>A | GRCh38 |
| NC_000006.11:g.3154692G>A , CM000668.1:g.3154692G>A | GRCh37 |
| NC_000006.10:g.3099691G>A | NCBI36 |
| NG_042223.1:g.8092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.743C>T MANE Select | ENSP00000369703.2:p.Ala248Val | |
| ENST00000679400.1:n.799C>T | ||
| ENST00000679907.1:n.1131C>T | ||
| ENST00000680036.1:n.1525C>T | ||
| ENST00000680967.1:n.1833C>T | ||
| ENST00000333628.3:c.743C>T | ENSP00000369703.2:p.Ala248Val | |
| NM_001069.2:c.743C>T | NP_001060.1:p.Ala248Val | |
| NM_001310315.1:c.488C>T | NP_001297244.1:p.Ala163Val | |
| NM_001069.3:c.743C>T MANE Select | NP_001060.1:p.Ala248Val | |
| NM_001310315.2:c.488C>T | NP_001297244.1:p.Ala163Val |