Linked Data
ClinVar Variation Id:
240854
dbSNP Id:
rs200669099
ExAC:
9:34514466 G / A
gnomAD v2:
9-34514466-G-A
gnomAD v3:
9-34514468-G-A
gnomAD v4:
9-34514468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34514468G>A , CM000671.2:g.34514468G>A | GRCh38 |
| NC_000009.11:g.34514466G>A , CM000671.1:g.34514466G>A | GRCh37 |
| NC_000009.10:g.34504466G>A | NCBI36 |
| NG_008127.1:g.60656G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242317.9:c.1644G>A MANE Select | ENSP00000242317.4:p.Trp548Ter | |
| ENST00000242317.8:c.1644G>A | ENSP00000242317.4:p.Trp548Ter | |
| ENST00000442556.1:c.155G>A | ||
| ENST00000470169.5:c.507-172G>A | ||
| ENST00000485580.1:n.123G>A | ||
| ENST00000614641.4:c.1656G>A | ENSP00000480538.1:p.Trp552Ter | |
| NM_001281428.1:c.1656G>A | NP_001268357.1:p.Trp552Ter | |
| NM_012144.3:c.1644G>A | NP_036276.1:p.Trp548Ter | |
| XM_006716758.2:c.1113G>A | XP_006716821.1:p.Trp371Ter | |
| XM_011517846.1:c.1656G>A | XP_011516148.1:p.Trp552Ter | |
| XM_011517847.1:c.1656G>A | XP_011516149.1:p.Trp552Ter | |
| XM_011517848.1:c.1398G>A | XP_011516150.1:p.Trp466Ter | |
| XM_011517849.1:c.1582-36G>A | XP_011516151.1:n.1582-36G>A | |
| XR_929232.1:n.1836-36G>A | ||
| XR_929233.1:n.1836-36G>A | ||
| XR_929235.1:n.1578-36G>A | ||
| XM_006716758.3:c.1113G>A | XP_006716821.1:p.Trp371Ter | |
| XM_011517846.2:c.1656G>A | XP_011516148.1:p.Trp552Ter | |
| XM_011517847.3:c.1656G>A | XP_011516149.1:p.Trp552Ter | |
| XM_011517848.2:c.1398G>A | XP_011516150.1:p.Trp466Ter | |
| XM_011517849.2:c.1582-36G>A | XP_011516151.1:n.1582-36G>A | |
| XM_017014625.2:c.1386G>A | XP_016870114.1:p.Trp462Ter | |
| XR_002956774.1:n.1783-36G>A | ||
| XR_929232.2:n.1783-36G>A | ||
| XR_929233.2:n.1783-36G>A | ||
| NM_012144.4:c.1644G>A MANE Select | NP_036276.1:p.Trp548Ter | |
| NM_001281428.2:c.1656G>A | NP_001268357.1:p.Trp552Ter |