Linked Data
ClinVar Variation Id:
224151
dbSNP Id:
rs139194636
ExAC:
1:119575826 T / C
gnomAD v2:
1-119575826-T-C
gnomAD v3:
1-119033203-T-C
gnomAD v4:
1-119033203-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119033203T>C , CM000663.2:g.119033203T>C | GRCh38 |
| NC_000001.10:g.119575826T>C , CM000663.1:g.119575826T>C | GRCh37 |
| NC_000001.9:g.119377349T>C | NCBI36 |
| NG_050658.1:g.112586A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000235521.5:c.791A>G MANE Select | ENSP00000235521.4:p.Tyr264Cys | |
| ENST00000235521.4:c.791A>G | ENSP00000235521.4:p.Tyr264Cys | |
| ENST00000369426.9:c.*157A>G | ENSP00000358434.5:n.*157A>G | |
| NM_015836.3:c.791A>G | NP_056651.1:p.Tyr264Cys | |
| NM_201263.2:c.*157A>G | NP_957715.1:n.*157A>G | |
| XM_005270350.2:c.737A>G | XP_005270407.1:p.Tyr246Cys | |
| XM_006710283.1:c.509A>G | XP_006710346.1:p.Tyr170Cys | |
| XM_011540493.1:c.722A>G | XP_011538795.1:p.Tyr241Cys | |
| XM_011540494.1:c.722A>G | XP_011538796.1:p.Tyr241Cys | |
| XM_011540495.1:c.533A>G | XP_011538797.1:p.Tyr178Cys | |
| XM_005270350.3:c.737A>G | XP_005270407.1:p.Tyr246Cys | |
| XM_011540494.2:c.722A>G | XP_011538796.1:p.Tyr241Cys | |
| XM_011540495.2:c.533A>G | XP_011538797.1:p.Tyr178Cys | |
| XM_017000038.1:c.734A>G | XP_016855527.1:p.Tyr245Cys | |
| XM_017000039.1:c.722A>G | XP_016855528.1:p.Tyr241Cys | |
| XM_017000040.1:c.620A>G | XP_016855529.1:p.Tyr207Cys | |
| XM_017000041.2:c.452A>G | XP_016855530.1:p.Tyr151Cys | |
| XM_017000042.1:c.*126A>G | XP_016855531.1:n.*126A>G | |
| XM_024449826.1:c.722A>G | XP_024305594.1:p.Tyr241Cys | |
| XM_024449860.1:c.509A>G | XP_024305628.1:p.Tyr170Cys | |
| XM_024449871.1:c.509A>G | XP_024305639.1:p.Tyr170Cys | |
| NM_001378226.1:c.722A>G | NP_001365155.1:p.Tyr241Cys | |
| NM_001378227.1:c.722A>G | NP_001365156.1:p.Tyr241Cys | |
| NM_001378228.1:c.620A>G | NP_001365157.1:p.Tyr207Cys | |
| NM_001378229.1:c.533A>G | NP_001365158.1:p.Tyr178Cys | |
| NM_001378230.1:c.509A>G | NP_001365159.1:p.Tyr170Cys | |
| NM_001378231.1:c.*126A>G | NP_001365160.1:n.*126A>G | |
| NM_015836.4:c.791A>G MANE Select | NP_056651.1:p.Tyr264Cys |