Linked Data
dbSNP Id:
rs752638250
gnomAD v2:
15-65321696-C-A
gnomAD v3:
15-65029358-C-A
gnomAD v4:
15-65029358-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029358C>A , CM000677.2:g.65029358C>A | GRCh38 |
| NC_000015.9:g.65321696C>A , CM000677.1:g.65321696C>A | GRCh37 |
| NC_000015.8:g.63108749C>A | NCBI36 |
| NG_029184.1:g.5282G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.209+47G>T MANE Select | ENSP00000220058.4:n.209+47G>T | |
| ENST00000220058.8:c.209+47G>T | ENSP00000220058.4:n.209+47G>T | |
| ENST00000543678.1:c.209+47G>T | ENSP00000443754.1:n.209+47G>T | |
| ENST00000558460.5:c.209+47G>T | ENSP00000452646.1:n.209+47G>T | |
| ENST00000558614.1:n.170+47G>T | ||
| ENST00000559633.1:n.128+47G>T | ||
| ENST00000560717.5:c.194+47G>T | ENSP00000457257.1:n.194+47G>T | |
| NM_139242.3:c.209+47G>T | NP_640335.2:n.209+47G>T | |
| XM_005254158.5:c.256G>T | XP_005254215.2:p.Ala86Ser | |
| XR_001751081.1:n.271G>T | ||
| NM_139242.4:c.209+47G>T MANE Select | NP_640335.2:n.209+47G>T |