Linked Data
ClinVar Variation Id:
542192
ClinVar RCV Id:
RCV000652584
dbSNP Id:
rs372048855
ExAC:
1:3755660 A / C
gnomAD v2:
1-3755660-A-C
gnomAD v3:
1-3839096-A-C
gnomAD v4:
1-3839096-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3839096A>C , CM000663.2:g.3839096A>C | GRCh38 |
| NC_000001.10:g.3755660A>C , CM000663.1:g.3755660A>C | GRCh37 |
| NC_000001.9:g.3745520A>C | NCBI36 |
| NG_046726.1:g.23138T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378230.8:c.759T>G MANE Select | ENSP00000367476.3:p.Tyr253Ter | |
| ENST00000428079.6:c.759T>G | ENSP00000394989.2:p.Tyr253Ter | |
| ENST00000461667.2:c.759T>G | ENSP00000463605.2:p.Tyr253Ter | |
| ENST00000674544.1:c.585T>G | ENSP00000502641.1:p.Tyr195Ter | |
| ENST00000674558.1:c.759T>G | ENSP00000501829.1:p.Tyr253Ter | |
| ENST00000674623.1:c.759T>G | ENSP00000501733.1:p.Tyr253Ter | |
| ENST00000674879.1:n.1096T>G | ||
| ENST00000674985.1:c.759T>G | ENSP00000502482.1:p.Tyr253Ter | |
| ENST00000675108.1:c.*675T>G | ENSP00000502131.1:n.*675T>G | |
| ENST00000675200.1:c.759T>G | ENSP00000502512.1:p.Tyr253Ter | |
| ENST00000675334.1:n.563T>G | ||
| ENST00000675375.1:c.759T>G | ENSP00000502180.1:p.Tyr253Ter | |
| ENST00000675520.1:n.1096T>G | ||
| ENST00000675666.1:c.759T>G | ENSP00000502548.1:p.Tyr253Ter | |
| ENST00000675677.1:c.759T>G | ENSP00000501944.1:p.Tyr253Ter | |
| ENST00000675750.1:c.*262T>G | ENSP00000502342.1:n.*262T>G | |
| ENST00000675966.1:n.987T>G | ||
| ENST00000676009.1:c.759T>G | ENSP00000502246.1:p.Tyr253Ter | |
| ENST00000676052.1:c.777T>G | ENSP00000502793.1:p.Tyr259Ter | |
| ENST00000378230.7:c.759T>G | ENSP00000367476.3:p.Tyr253Ter | |
| ENST00000428079.5:c.585T>G | ENSP00000394989.1:p.Tyr195Ter | |
| ENST00000443466.1:c.15T>G | ENSP00000411927.1:p.Tyr5Ter | |
| ENST00000494653.5:n.1083T>G | ||
| NM_014704.3:c.759T>G | NP_055519.1:p.Tyr253Ter | |
| XM_005244815.3:c.867T>G | XP_005244872.1:p.Tyr289Ter | |
| XM_011542473.1:c.885T>G | XP_011540775.1:p.Tyr295Ter | |
| XM_011542474.1:c.777T>G | XP_011540776.1:p.Tyr259Ter | |
| XM_011542475.1:c.885T>G | XP_011540777.1:p.Tyr295Ter | |
| XM_011542476.1:c.885T>G | XP_011540778.1:p.Tyr295Ter | |
| XM_011542477.1:c.885T>G | XP_011540779.1:p.Tyr295Ter | |
| XM_011542478.1:c.885T>G | XP_011540780.1:p.Tyr295Ter | |
| XM_005244815.4:c.867T>G | XP_005244872.1:p.Tyr289Ter | |
| XM_011542474.3:c.777T>G | XP_011540776.1:p.Tyr259Ter | |
| XM_017002918.2:c.759T>G | XP_016858407.1:p.Tyr253Ter | |
| XM_017002919.2:c.759T>G | XP_016858408.1:p.Tyr253Ter | |
| XM_024451101.1:c.885T>G | XP_024306869.1:p.Tyr295Ter | |
| XM_024451102.1:c.885T>G | XP_024306870.1:p.Tyr295Ter | |
| XM_024451103.1:c.867T>G | XP_024306871.1:p.Tyr289Ter | |
| XM_024451104.1:c.885T>G | XP_024306872.1:p.Tyr295Ter | |
| XM_024451106.1:c.885T>G | XP_024306874.1:p.Tyr295Ter | |
| XM_024451108.1:c.885T>G | XP_024306876.1:p.Tyr295Ter | |
| NM_014704.4:c.759T>G MANE Select | NP_055519.1:p.Tyr253Ter |