Linked Data
dbSNP Id:
rs11568481
ExAC:
11:62763248 G / A
gnomAD v2:
11-62763248-G-A
gnomAD v3:
11-62995776-G-A
gnomAD v4:
11-62995776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62995776G>A , CM000673.2:g.62995776G>A | GRCh38 |
| NC_000011.9:g.62763248G>A , CM000673.1:g.62763248G>A | GRCh37 |
| NC_000011.8:g.62519824G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336232.7:c.929C>T MANE Select | ENSP00000337335.2:p.Ala310Val | |
| ENST00000311438.12:c.929C>T | ENSP00000311463.8:p.Ala310Val | |
| ENST00000336232.6:c.929C>T | ENSP00000337335.2:p.Ala310Val | |
| ENST00000430500.6:c.929C>T | ENSP00000398548.2:p.Ala310Val | |
| ENST00000535878.5:c.560C>T | ENSP00000443368.1:p.Ala187Val | |
| ENST00000539841.1:n.956C>T | ||
| ENST00000545207.5:c.656C>T | ENSP00000441658.1:p.Ala219Val | |
| NM_001184732.1:c.929C>T | NP_001171661.1:p.Ala310Val | |
| NM_001184733.1:c.656C>T | NP_001171662.1:p.Ala219Val | |
| NM_001184736.1:c.560C>T | NP_001171665.1:p.Ala187Val | |
| NM_004254.3:c.929C>T | NP_004245.2:p.Ala310Val | |
| XM_011545364.1:c.560C>T | XP_011543666.1:p.Ala187Val | |
| NM_004254.4:c.929C>T MANE Select | NP_004245.2:p.Ala310Val | |
| NM_001184732.2:c.929C>T | NP_001171661.1:p.Ala310Val | |
| NM_001184733.2:c.656C>T | NP_001171662.1:p.Ala219Val | |
| NM_001184736.2:c.560C>T | NP_001171665.1:p.Ala187Val |