Linked Data
dbSNP Id:
rs1050147
ExAC:
6:31237802 A / G
gnomAD v2:
6-31237802-A-G
gnomAD v3:
6-31270025-A-G
gnomAD v4:
6-31270025-A-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270025A>G , CM000668.2:g.31270025A>G | GRCh38 |
| NC_000006.11:g.31237802A>G , CM000668.1:g.31237802A>G | GRCh37 |
| NC_000006.10:g.31345781A>G | NCBI36 |
| NG_029422.2:g.7107T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.956T>C MANE Select | ENSP00000365402.5:p.Val319Ala | |
| ENST00000376228.9:c.956T>C | ENSP00000365402.5:p.Val319Ala | |
| ENST00000376237.8:c.*543T>C | ENSP00000365412.4:n.*543T>C | |
| ENST00000383329.7:c.956T>C | ENSP00000372819.3:p.Val319Ala | |
| ENST00000470363.5:n.274T>C | ||
| ENST00000487245.5:n.1315T>C | ||
| NM_002117.5:c.956T>C | NP_002108.4:p.Val319Ala | |
| NM_002117.6:c.956T>C MANE Select | NP_002108.4:p.Val319Ala |