Linked Data
dbSNP Id:
rs803917
gnomAD v2:
9-119467660-G-A
gnomAD v3:
9-116705381-G-A
gnomAD v4:
9-116705381-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116705381G>A , CM000671.2:g.116705381G>A | GRCh38 |
| NC_000009.11:g.119467660G>A , CM000671.1:g.119467660G>A | GRCh37 |
| NC_000009.10:g.118507481G>A | NCBI36 |
| NG_021409.1:g.714658C>T | |
| NG_021409.2:g.714677C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313400.9:c.2806+20390C>T MANE Select | ENSP00000314038.4:n.2806+20390C>T | |
| ENST00000361477.8:c.2653+20390C>T | ENSP00000355116.5:n.2653+20390C>T | |
| ENST00000313400.8:c.2806+20390C>T | ENSP00000314038.4:n.2806+20390C>T | |
| ENST00000361209.6:c.2653+20390C>T | ENSP00000354504.2:n.2653+20390C>T | |
| ENST00000361477.7:c.-39+20390C>T | ENSP00000355116.4:n.-39+20390C>T | |
| ENST00000373986.7:c.1975+20390C>T | ENSP00000363098.3:n.1975+20390C>T | |
| NM_014010.4:c.2653+20390C>T | NP_054729.3:n.2653+20390C>T | |
| NM_001365068.1:c.2806+20390C>T MANE Select | NP_001351997.1:n.2806+20390C>T | |
| NM_001365069.1:c.2794+20390C>T | NP_001351998.1:n.2794+20390C>T | |
| NM_014010.5:c.2653+20390C>T | NP_054729.3:n.2653+20390C>T |