Linked Data
ClinVar Variation Id:
373914
ClinVar RCV Id:
RCV000415280
dbSNP Id:
rs1057518765
gnomAD v2:
3-69998233-A-G
gnomAD v4:
3-69949082-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69949082A>G , CM000665.2:g.69949082A>G | GRCh38 |
| NC_000003.11:g.69998233A>G , CM000665.1:g.69998233A>G | GRCh37 |
| NC_000003.10:g.70080923A>G | NCBI36 |
| NG_011631.1:g.214601A>G , LRG_776:g.214601A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314589.11:c.746A>G | ENSP00000324443.5:p.Tyr249Cys | |
| ENST00000687384.1:c.743A>G | ENSP00000510225.1:p.Tyr248Cys | |
| ENST00000689390.1:n.968A>G | ||
| ENST00000693031.1:c.719A>G | ENSP00000509845.1:p.Tyr240Cys | |
| ENST00000693549.1:c.746A>G | ENSP00000509358.1:p.Tyr249Cys | |
| ENST00000314589.10:c.746A>G | ENSP00000324443.5:p.Tyr249Cys | |
| ENST00000352241.9:c.794A>G MANE Select | ENSP00000295600.8:p.Tyr265Cys | |
| ENST00000394351.9:c.473A>G MANE Plus Clinical | ENSP00000377880.3:p.Tyr158Cys | |
| ENST00000448226.9:c.791A>G | ENSP00000391803.3:p.Tyr264Cys | |
| ENST00000642352.1:c.794A>G | ENSP00000494105.1:p.Tyr265Cys | |
| ENST00000314557.10:c.473A>G | ENSP00000324246.6:p.Tyr158Cys | |
| ENST00000314589.9:c.746A>G | ENSP00000324443.5:p.Tyr249Cys | |
| ENST00000328528.10:c.791A>G | ENSP00000327867.6:p.Tyr264Cys | |
| ENST00000352241.8:c.794A>G | ENSP00000295600.7:p.Tyr265Cys | |
| ENST00000394351.7:c.473A>G | ENSP00000377880.3:p.Tyr158Cys | |
| ENST00000433517.5:c.470A>G | ENSP00000411389.1:p.Tyr157Cys | |
| ENST00000448226.6:c.794A>G | ENSP00000391803.2:p.Tyr265Cys | |
| ENST00000451708.5:c.746A>G | ENSP00000398639.1:p.Tyr249Cys | |
| ENST00000472437.5:c.638A>G | ENSP00000418845.1:p.Tyr213Cys | |
| ENST00000478490.5:c.*120A>G | ENSP00000433487.1:n.*120A>G | |
| ENST00000531774.1:c.305A>G | ENSP00000435909.1:p.Tyr102Cys | |
| NM_000248.3:c.473A>G , LRG_776t1:c.473A>G | NP_000239.1:p.Tyr158Cys | |
| NM_001184967.1:c.638A>G | NP_001171896.1:p.Tyr213Cys | |
| NM_006722.2:c.791A>G | NP_006713.1:p.Tyr264Cys | |
| NM_198158.2:c.473A>G | NP_937801.1:p.Tyr158Cys | |
| NM_198159.2:c.794A>G | NP_937802.1:p.Tyr265Cys | |
| NM_198177.2:c.746A>G | NP_937820.1:p.Tyr249Cys | |
| NM_198178.2:c.305A>G | NP_937821.2:p.Tyr102Cys | |
| XM_005264754.1:c.794A>G | XP_005264811.1:p.Tyr265Cys | |
| XM_005264755.2:c.746A>G | XP_005264812.1:p.Tyr249Cys | |
| XM_006713164.2:c.638A>G | XP_006713227.1:p.Tyr213Cys | |
| XM_011533722.1:c.791A>G | XP_011532024.1:p.Tyr264Cys | |
| XM_011533723.1:c.743A>G | XP_011532025.1:p.Tyr248Cys | |
| XM_011533724.1:c.638A>G | XP_011532026.1:p.Tyr213Cys | |
| XM_011533725.1:c.626A>G | XP_011532027.1:p.Tyr209Cys | |
| XM_011533726.1:c.626A>G | XP_011532028.1:p.Tyr209Cys | |
| NM_001354604.1:c.794A>G | NP_001341533.1:p.Tyr265Cys | |
| NM_001354605.1:c.791A>G | NP_001341534.1:p.Tyr264Cys | |
| NM_001354606.1:c.791A>G | NP_001341535.1:p.Tyr264Cys | |
| NM_001354607.1:c.743A>G | NP_001341536.1:p.Tyr248Cys | |
| NM_001354608.1:c.638A>G | NP_001341537.1:p.Tyr213Cys | |
| NM_001184967.2:c.638A>G | NP_001171896.1:p.Tyr213Cys | |
| NM_001354604.2:c.794A>G MANE Select | NP_001341533.1:p.Tyr265Cys | |
| NM_001354605.2:c.791A>G | NP_001341534.1:p.Tyr264Cys | |
| NM_001354606.2:c.791A>G | NP_001341535.1:p.Tyr264Cys | |
| NM_001354607.2:c.743A>G | NP_001341536.1:p.Tyr248Cys | |
| NM_001354608.2:c.638A>G | NP_001341537.1:p.Tyr213Cys | |
| NM_198158.3:c.473A>G | NP_937801.1:p.Tyr158Cys | |
| NM_198159.3:c.794A>G | NP_937802.1:p.Tyr265Cys | |
| NM_198177.3:c.746A>G | NP_937820.1:p.Tyr249Cys | |
| NM_198178.3:c.305A>G | NP_937821.2:p.Tyr102Cys | |
| NM_000248.4:c.473A>G MANE Plus Clinical | NP_000239.1:p.Tyr158Cys | |
| NM_006722.3:c.791A>G | NP_006713.1:p.Tyr264Cys |