Linked Data
ClinVar Variation Id:
194633
dbSNP Id:
rs756919296
ExAC:
9:111665159 T / C
gnomAD v2:
9-111665159-T-C
gnomAD v3:
9-108902879-T-C
gnomAD v4:
9-108902879-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108902879T>C , CM000671.2:g.108902879T>C | GRCh38 |
| NC_000009.11:g.111665159T>C , CM000671.1:g.111665159T>C | GRCh37 |
| NC_000009.10:g.110704980T>C | NCBI36 |
| NG_008788.1:g.36450A>G , LRG_251:g.36450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.1814A>G MANE Select | ENSP00000363779.5:p.Tyr605Cys | |
| ENST00000495759.6:c.*424A>G | ENSP00000433514.2:n.*424A>G | |
| ENST00000674535.1:c.1814A>G | ENSP00000502142.1:p.Tyr605Cys | |
| ENST00000674704.1:n.3621A>G | ||
| ENST00000674836.1:n.2119A>G | ||
| ENST00000674890.1:c.1814A>G | ENSP00000501870.1:p.Tyr605Cys | |
| ENST00000674938.1:c.1472A>G | ENSP00000502427.1:p.Tyr491Cys | |
| ENST00000674948.1:c.1472A>G | ENSP00000501602.1:p.Tyr491Cys | |
| ENST00000675052.1:c.1814A>G | ENSP00000502664.1:p.Tyr605Cys | |
| ENST00000675078.1:c.1814A>G | ENSP00000501549.1:p.Tyr605Cys | |
| ENST00000675215.1:c.*1038A>G | ENSP00000502558.1:n.*1038A>G | |
| ENST00000675233.1:n.3641A>G | ||
| ENST00000675321.1:c.1814A>G | ENSP00000502751.1:p.Tyr605Cys | |
| ENST00000675325.1:n.3610A>G | ||
| ENST00000675335.1:c.1845A>G | ENSP00000502182.1:n.1845A>G | |
| ENST00000675400.1:n.3487A>G | ||
| ENST00000675406.1:c.1814A>G | ENSP00000501893.1:p.Tyr605Cys | |
| ENST00000675458.1:c.1907A>G | ENSP00000501754.1:n.1907A>G | |
| ENST00000675507.1:n.3610A>G | ||
| ENST00000675535.1:c.1814A>G | ENSP00000501667.1:p.Tyr605Cys | |
| ENST00000675566.1:n.3610A>G | ||
| ENST00000675602.1:n.4862A>G | ||
| ENST00000675647.1:n.2119A>G | ||
| ENST00000675711.1:c.1814A>G | ENSP00000502485.1:p.Tyr605Cys | |
| ENST00000675727.1:c.1814A>G | ENSP00000501722.1:p.Tyr605Cys | |
| ENST00000675748.1:n.3448A>G | ||
| ENST00000675765.1:c.1814A>G | ENSP00000502640.1:p.Tyr605Cys | |
| ENST00000675825.1:c.1814A>G | ENSP00000502632.1:p.Tyr605Cys | |
| ENST00000675877.1:n.2119A>G | ||
| ENST00000675893.1:c.*2883A>G | ENSP00000502001.1:n.*2883A>G | |
| ENST00000675943.1:n.5429A>G | ||
| ENST00000675979.1:c.*1057A>G | ENSP00000502208.1:n.*1057A>G | |
| ENST00000676044.1:c.1814A>G | ENSP00000502378.1:p.Tyr605Cys | |
| ENST00000676086.1:n.3599A>G | ||
| ENST00000676121.1:n.3642A>G | ||
| ENST00000676237.1:c.1715A>G | ENSP00000501828.1:p.Tyr572Cys | |
| ENST00000676416.1:c.1472A>G | ENSP00000501660.1:p.Tyr491Cys | |
| ENST00000676424.1:n.3610A>G | ||
| ENST00000676429.1:n.6283A>G | ||
| ENST00000374647.9:c.1814A>G | ENSP00000363779.5:p.Tyr605Cys | |
| ENST00000537196.1:c.767A>G | ENSP00000439367.1:p.Tyr256Cys | |
| NM_003640.3:c.1814A>G , LRG_251t1:c.1814A>G | NP_003631.2:p.Tyr605Cys | |
| XM_005252285.2:c.1472A>G | XP_005252342.1:p.Tyr491Cys | |
| XM_011519136.1:c.1814A>G | XP_011517438.1:p.Tyr605Cys | |
| XM_011519137.1:c.1472A>G | XP_011517439.1:p.Tyr491Cys | |
| XR_929859.1:n.2130A>G | ||
| NM_001318360.1:c.1472A>G | NP_001305289.1:p.Tyr491Cys | |
| NM_001330749.1:c.767A>G | NP_001317678.1:p.Tyr256Cys | |
| NM_003640.4:c.1814A>G | NP_003631.2:p.Tyr605Cys | |
| XM_011519136.2:c.1814A>G | XP_011517438.1:p.Tyr605Cys | |
| XR_929859.3:n.2141A>G | ||
| NM_003640.5:c.1814A>G MANE Select | NP_003631.2:p.Tyr605Cys | |
| NM_001318360.2:c.1472A>G | NP_001305289.1:p.Tyr491Cys | |
| NM_001330749.2:c.767A>G | NP_001317678.1:p.Tyr256Cys |