Linked Data
dbSNP Id:
rs10983320
gnomAD v2:
9-119483689-C-T
gnomAD v3:
9-116721410-C-T
gnomAD v4:
9-116721410-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116721410C>T , CM000671.2:g.116721410C>T | GRCh38 |
| NC_000009.11:g.119483689C>T , CM000671.1:g.119483689C>T | GRCh37 |
| NC_000009.10:g.118523510C>T | NCBI36 |
| NG_021409.1:g.698629G>A | |
| NG_021409.2:g.698648G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313400.9:c.2806+4361G>A MANE Select | ENSP00000314038.4:n.2806+4361G>A | |
| ENST00000361477.8:c.2653+4361G>A | ENSP00000355116.5:n.2653+4361G>A | |
| ENST00000313400.8:c.2806+4361G>A | ENSP00000314038.4:n.2806+4361G>A | |
| ENST00000361209.6:c.2653+4361G>A | ENSP00000354504.2:n.2653+4361G>A | |
| ENST00000361477.7:c.-39+4361G>A | ENSP00000355116.4:n.-39+4361G>A | |
| ENST00000373986.7:c.1975+4361G>A | ENSP00000363098.3:n.1975+4361G>A | |
| NM_014010.4:c.2653+4361G>A | NP_054729.3:n.2653+4361G>A | |
| NM_001365068.1:c.2806+4361G>A MANE Select | NP_001351997.1:n.2806+4361G>A | |
| NM_001365069.1:c.2794+4361G>A | NP_001351998.1:n.2794+4361G>A | |
| NM_014010.5:c.2653+4361G>A | NP_054729.3:n.2653+4361G>A |