Linked Data
ClinVar Variation Id:
228610
dbSNP Id:
rs148701985
ExAC:
9:34459050 A / G
gnomAD v2:
9-34459050-A-G
gnomAD v3:
9-34459052-A-G
gnomAD v4:
9-34459052-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34459052A>G , CM000671.2:g.34459052A>G | GRCh38 |
| NC_000009.11:g.34459050A>G , CM000671.1:g.34459050A>G | GRCh37 |
| NC_000009.10:g.34449050A>G | NCBI36 |
| NG_008127.1:g.5240A>G | |
| NG_027971.1:g.4519T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.47A>G MANE Select | ENSP00000242317.4:p.Gln16Arg | |
| ENST00000242317.8:c.47A>G | ENSP00000242317.4:p.Gln16Arg | |
| ENST00000437363.5:c.47A>G | ENSP00000395396.1:p.Gln16Arg | |
| ENST00000470982.5:n.47+1592A>G | ||
| ENST00000614641.4:c.47A>G | ENSP00000480538.1:p.Gln16Arg | |
| NM_001281428.1:c.47A>G | NP_001268357.1:p.Gln16Arg | |
| NM_012144.3:c.47A>G | NP_036276.1:p.Gln16Arg | |
| XM_011517846.1:c.47A>G | XP_011516148.1:p.Gln16Arg | |
| XM_011517847.1:c.47A>G | XP_011516149.1:p.Gln16Arg | |
| XM_011517848.1:c.47A>G | XP_011516150.1:p.Gln16Arg | |
| XM_011517849.1:c.47A>G | XP_011516151.1:p.Gln16Arg | |
| XM_011517850.1:c.47A>G | XP_011516152.1:p.Gln16Arg | |
| XR_929232.1:n.301A>G | ||
| XR_929233.1:n.301A>G | ||
| XR_929235.1:n.301A>G | ||
| XM_011517846.2:c.47A>G | XP_011516148.1:p.Gln16Arg | |
| XM_011517847.3:c.47A>G | XP_011516149.1:p.Gln16Arg | |
| XM_011517848.2:c.47A>G | XP_011516150.1:p.Gln16Arg | |
| XM_011517849.2:c.47A>G | XP_011516151.1:p.Gln16Arg | |
| XM_011517850.3:c.47A>G | XP_011516152.1:p.Gln16Arg | |
| XM_017014625.2:c.47A>G | XP_016870114.1:p.Gln16Arg | |
| XR_002956774.1:n.248A>G | ||
| XR_929232.2:n.248A>G | ||
| XR_929233.2:n.248A>G | ||
| NM_012144.4:c.47A>G MANE Select | NP_036276.1:p.Gln16Arg | |
| NM_001281428.2:c.47A>G | NP_001268357.1:p.Gln16Arg |