Linked Data
ClinVar Variation Id:
4627
dbSNP Id:
rs80356540
ExAC:
10:102750231 A / G
gnomAD v2:
10-102750231-A-G
gnomAD v3:
10-100990474-A-G
gnomAD v4:
10-100990474-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100990474A>G , CM000672.2:g.100990474A>G | GRCh38 |
| NC_000010.10:g.102750231A>G , CM000672.1:g.102750231A>G | GRCh37 |
| NC_000010.9:g.102740221A>G | NCBI36 |
| NG_011646.1:g.2042T>C | |
| NG_012624.1:g.7939A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311916.8:c.1523A>G MANE Select | ENSP00000309595.2:p.Tyr508Cys | |
| ENST00000370228.2:c.1523A>G | ENSP00000359248.1:p.Tyr508Cys | |
| ENST00000643860.1:c.1523A>G | ENSP00000494389.1:p.Tyr508Cys | |
| ENST00000646226.1:n.338A>G | ||
| ENST00000647109.1:c.182A>G | ||
| ENST00000650396.1:c.484A>G | ||
| ENST00000311916.6:c.1523A>G | ENSP00000309595.2:p.Tyr508Cys | |
| ENST00000370228.1:c.1523A>G | ENSP00000359248.1:p.Tyr508Cys | |
| ENST00000473656.5:n.344A>G | ||
| ENST00000476766.5:n.409A>G | ||
| NM_001163812.1:c.1523A>G | NP_001157284.1:p.Tyr508Cys | |
| NM_001163813.1:c.161A>G | NP_001157285.1:p.Tyr54Cys | |
| NM_001163814.1:c.161A>G | NP_001157286.1:p.Tyr54Cys | |
| NM_021830.4:c.1523A>G | NP_068602.2:p.Tyr508Cys | |
| XM_011539974.1:c.161A>G | XP_011538276.1:p.Tyr54Cys | |
| XM_011539975.1:c.161A>G | XP_011538277.1:p.Tyr54Cys | |
| XR_945788.1:n.2294A>G | ||
| XM_011539975.2:c.161A>G | XP_011538277.1:p.Tyr54Cys | |
| XM_017016437.1:c.161A>G | XP_016871926.1:p.Tyr54Cys | |
| XR_001747142.1:n.1697A>G | ||
| XR_001747144.1:n.1635A>G | ||
| XR_002956991.1:n.1635A>G | ||
| XR_945788.2:n.1635A>G | ||
| NM_021830.5:c.1523A>G MANE Select | NP_068602.2:p.Tyr508Cys | |
| NM_001163812.2:c.1523A>G | NP_001157284.1:p.Tyr508Cys | |
| NM_001163813.2:c.161A>G | NP_001157285.1:p.Tyr54Cys | |
| NM_001163814.2:c.161A>G | NP_001157286.1:p.Tyr54Cys | |
| NM_001368275.1:c.161A>G | NP_001355204.1:p.Tyr54Cys | |
| NR_160738.1:n.2191A>G | ||
| NR_160739.1:n.351A>G | ||
| NR_160740.1:n.2129A>G | ||
| NR_160741.1:n.2129A>G | ||
| NR_160742.1:n.2129A>G |