Linked Data
ClinVar Variation Id:
1067969
ClinVar RCV Id:
RCV001379375
dbSNP Id:
rs376252276
gnomAD v2:
9-34513110-G-T
gnomAD v3:
9-34513112-G-T
gnomAD v4:
9-34513112-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34513112G>T , CM000671.2:g.34513112G>T | GRCh38 |
| NC_000009.11:g.34513110G>T , CM000671.1:g.34513110G>T | GRCh37 |
| NC_000009.10:g.34503110G>T | NCBI36 |
| NG_008127.1:g.59300G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242317.9:c.1490G>T MANE Select | ENSP00000242317.4:p.Gly497Val | |
| ENST00000242317.8:c.1490G>T | ENSP00000242317.4:p.Gly497Val | |
| ENST00000442556.1:c.1G>T | ||
| ENST00000470169.5:c.427G>T | ||
| ENST00000614641.4:c.1502G>T | ENSP00000480538.1:p.Gly501Val | |
| NM_001281428.1:c.1502G>T | NP_001268357.1:p.Gly501Val | |
| NM_012144.3:c.1490G>T | NP_036276.1:p.Gly497Val | |
| XM_006716758.2:c.959G>T | XP_006716821.1:p.Gly320Val | |
| XM_011517846.1:c.1502G>T | XP_011516148.1:p.Gly501Val | |
| XM_011517847.1:c.1502G>T | XP_011516149.1:p.Gly501Val | |
| XM_011517848.1:c.1324-1282G>T | XP_011516150.1:n.1324-1282G>T | |
| XM_011517849.1:c.1502G>T | XP_011516151.1:p.Gly501Val | |
| XR_929232.1:n.1756G>T | ||
| XR_929233.1:n.1756G>T | ||
| XR_929235.1:n.1578-1392G>T | ||
| XM_006716758.3:c.959G>T | XP_006716821.1:p.Gly320Val | |
| XM_011517846.2:c.1502G>T | XP_011516148.1:p.Gly501Val | |
| XM_011517847.3:c.1502G>T | XP_011516149.1:p.Gly501Val | |
| XM_011517848.2:c.1324-1282G>T | XP_011516150.1:n.1324-1282G>T | |
| XM_011517849.2:c.1502G>T | XP_011516151.1:p.Gly501Val | |
| XM_017014625.2:c.1312-1282G>T | XP_016870114.1:n.1312-1282G>T | |
| XR_002956774.1:n.1703G>T | ||
| XR_929232.2:n.1703G>T | ||
| XR_929233.2:n.1703G>T | ||
| NM_012144.4:c.1490G>T MANE Select | NP_036276.1:p.Gly497Val | |
| NM_001281428.2:c.1502G>T | NP_001268357.1:p.Gly501Val |