Linked Data
dbSNP Id:
rs10817933
gnomAD v2:
9-119544321-G-A
gnomAD v3:
9-116782042-G-A
gnomAD v4:
9-116782042-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116782042G>A , CM000671.2:g.116782042G>A | GRCh38 |
| NC_000009.11:g.119544321G>A , CM000671.1:g.119544321G>A | GRCh37 |
| NC_000009.10:g.118584142G>A | NCBI36 |
| NG_021409.1:g.637997C>T | |
| NG_021409.2:g.638016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313400.9:c.2396+23590C>T MANE Select | ENSP00000314038.4:n.2396+23590C>T | |
| ENST00000361477.8:c.2243+23590C>T | ENSP00000355116.5:n.2243+23590C>T | |
| ENST00000313400.8:c.2396+23590C>T | ENSP00000314038.4:n.2396+23590C>T | |
| ENST00000361209.6:c.2243+23590C>T | ENSP00000354504.2:n.2243+23590C>T | |
| ENST00000361477.7:c.-449+23590C>T | ENSP00000355116.4:n.-449+23590C>T | |
| ENST00000373986.7:c.1565+23590C>T | ENSP00000363098.3:n.1565+23590C>T | |
| NM_014010.4:c.2243+23590C>T | NP_054729.3:n.2243+23590C>T | |
| NM_001365068.1:c.2396+23590C>T MANE Select | NP_001351997.1:n.2396+23590C>T | |
| NM_001365069.1:c.2384+23590C>T | NP_001351998.1:n.2384+23590C>T | |
| NM_014010.5:c.2243+23590C>T | NP_054729.3:n.2243+23590C>T |