Linked Data
ClinVar Variation Id:
187784
ClinVar RCV Id:
RCV000167541
dbSNP Id:
rs786205138
gnomAD v2:
11-72005091-T-C
gnomAD v3:
11-72294047-T-C
gnomAD v4:
11-72294047-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72294047T>C , CM000673.2:g.72294047T>C | GRCh38 |
| NC_000011.9:g.72005091T>C , CM000673.1:g.72005091T>C | GRCh37 |
| NC_000011.8:g.71682739T>C | NCBI36 |
| NG_042130.1:g.145638A>G | |
| NG_042130.2:g.145638A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535990.6:c.*1450A>G | ENSP00000443822.2:n.*1450A>G | |
| ENST00000695924.1:n.2629A>G | ||
| ENST00000695925.1:n.3341A>G | ||
| ENST00000294053.9:c.1850A>G MANE Plus Clinical | ENSP00000294053.3:p.Tyr617Cys | |
| ENST00000535477.6:c.*1185A>G | ENSP00000440423.2:n.*1185A>G | |
| ENST00000538039.6:c.1760A>G MANE Select | ENSP00000441518.1:p.Tyr587Cys | |
| ENST00000543042.6:c.1805A>G | ENSP00000439746.2:p.Tyr602Cys | |
| ENST00000642187.1:c.1268A>G | ENSP00000494594.1:n.1268A>G | |
| ENST00000645105.1:n.1178A>G | ||
| ENST00000646359.1:n.938A>G | ||
| ENST00000294053.7:c.1850A>G | ENSP00000294053.3:p.Tyr617Cys | |
| ENST00000340729.9:c.1673A>G | ENSP00000340385.5:p.Tyr558Cys | |
| ENST00000437826.6:c.1715A>G | ENSP00000407296.2:p.Tyr572Cys | |
| ENST00000535477.5:c.*180A>G | ENSP00000440423.1:n.*180A>G | |
| ENST00000535990.5:c.1865A>G | ENSP00000443822.1:p.Tyr622Cys | |
| ENST00000538021.5:c.777A>G | ENSP00000445180.2:n.777A>G | |
| ENST00000538039.5:c.1760A>G | ENSP00000441518.1:p.Tyr587Cys | |
| ENST00000543042.5:c.1247A>G | ENSP00000439746.1:p.Tyr416Cys | |
| NM_001258392.1:c.1760A>G | NP_001245321.1:p.Tyr587Cys | |
| NM_001258392.2:c.1760A>G | NP_001245321.1:p.Tyr587Cys | |
| NM_001258393.1:c.1673A>G | NP_001245322.1:p.Tyr558Cys | |
| NM_001258393.2:c.1673A>G | NP_001245322.1:p.Tyr558Cys | |
| NM_001258394.1:c.1715A>G | NP_001245323.1:p.Tyr572Cys | |
| NM_001258394.2:c.1715A>G | NP_001245323.1:p.Tyr572Cys | |
| NM_030813.4:c.1850A>G | NP_110440.1:p.Tyr617Cys | |
| NM_030813.5:c.1850A>G | NP_110440.1:p.Tyr617Cys | |
| XM_005274320.1:c.1763A>G | XP_005274377.1:p.Tyr588Cys | |
| XM_011545288.1:c.1805A>G | XP_011543590.1:p.Tyr602Cys | |
| NM_001258392.3:c.1760A>G MANE Select | NP_001245321.1:p.Tyr587Cys | |
| NM_001258393.3:c.1673A>G | NP_001245322.1:p.Tyr558Cys | |
| NM_030813.6:c.1850A>G MANE Plus Clinical | NP_110440.1:p.Tyr617Cys | |
| NM_001258394.3:c.1715A>G | NP_001245323.1:p.Tyr572Cys |