Linked Data
ClinVar Variation Id:
37319
dbSNP Id:
rs201777056
ExAC:
14:74759326 T / C
gnomAD v2:
14-74759326-T-C
gnomAD v3:
14-74292623-T-C
gnomAD v4:
14-74292623-T-C
PubMed:
PMID:22922874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74292623T>C , CM000676.2:g.74292623T>C | GRCh38 |
| NC_000014.8:g.74759326T>C , CM000676.1:g.74759326T>C | GRCh37 |
| NC_000014.7:g.73829079T>C | NCBI36 |
| NG_032875.1:g.15442A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356924.9:c.956A>G MANE Select | ENSP00000349396.4:p.Tyr319Cys | |
| ENST00000356924.8:c.956A>G | ENSP00000349396.4:p.Tyr319Cys | |
| ENST00000460308.6:c.*562A>G | ENSP00000436527.2:n.*562A>G | |
| ENST00000469672.5:c.*482A>G | ENSP00000434626.1:n.*482A>G | |
| ENST00000474270.1:c.99A>G | ||
| ENST00000481935.5:c.*657A>G | ENSP00000436782.1:n.*657A>G | |
| ENST00000496015.5:n.633A>G | ||
| ENST00000553486.5:c.*657A>G | ENSP00000450611.1:n.*657A>G | |
| ENST00000553745.5:c.*666A>G | ENSP00000451778.1:n.*666A>G | |
| ENST00000553998.5:c.406A>G | ||
| ENST00000555617.5:c.*356A>G | ENSP00000451521.1:n.*356A>G | |
| ENST00000556119.5:c.*577A>G | ENSP00000450491.1:n.*577A>G | |
| ENST00000557554.5:n.371-2124A>G | ||
| NM_005050.3:c.956A>G | NP_005041.1:p.Tyr319Cys | |
| NR_003256.2:n.980A>G | ||
| XM_005267938.3:c.956A>G | XP_005267995.1:p.Tyr319Cys | |
| XM_005267939.2:c.542A>G | XP_005267996.1:p.Tyr181Cys | |
| XM_005267940.2:c.542A>G | XP_005267997.1:p.Tyr181Cys | |
| XM_005267941.3:c.542A>G | XP_005267998.1:p.Tyr181Cys | |
| XM_005267942.3:c.542A>G | XP_005267999.1:p.Tyr181Cys | |
| XM_005267946.2:c.479A>G | XP_005268003.1:p.Tyr160Cys | |
| XM_005267949.2:c.479A>G | XP_005268006.1:p.Tyr160Cys | |
| XM_005267953.2:c.167A>G | XP_005268010.1:p.Tyr56Cys | |
| XM_006720223.1:c.695A>G | XP_006720286.1:p.Tyr232Cys | |
| XM_011537041.1:c.683A>G | XP_011535343.1:p.Tyr228Cys | |
| XM_011537042.1:c.479A>G | XP_011535344.1:p.Tyr160Cys | |
| XM_011537043.1:c.167A>G | XP_011535345.1:p.Tyr56Cys | |
| XR_245710.2:n.1041A>G | ||
| XR_943500.1:n.1041A>G | ||
| NM_001353591.1:c.830A>G | NP_001340520.1:p.Tyr277Cys | |
| NM_001353592.1:c.830A>G | NP_001340521.1:p.Tyr277Cys | |
| NM_001353593.1:c.695A>G | NP_001340522.1:p.Tyr232Cys | |
| NM_001353594.1:c.644A>G | NP_001340523.1:p.Tyr215Cys | |
| NM_001353595.1:c.542A>G | NP_001340524.1:p.Tyr181Cys | |
| NM_001353596.1:c.542A>G | NP_001340525.1:p.Tyr181Cys | |
| NM_001353597.1:c.491A>G | NP_001340526.1:p.Tyr164Cys | |
| NM_001353598.1:c.479A>G | NP_001340527.1:p.Tyr160Cys | |
| NM_001353599.1:c.479A>G | NP_001340528.1:p.Tyr160Cys | |
| NM_001353600.1:c.479A>G | NP_001340529.1:p.Tyr160Cys | |
| NM_001353601.1:c.479A>G | NP_001340530.1:p.Tyr160Cys | |
| NM_001353602.1:c.167A>G | NP_001340531.1:p.Tyr56Cys | |
| NM_001353603.1:c.167A>G | NP_001340532.1:p.Tyr56Cys | |
| NM_001353604.1:c.167A>G | NP_001340533.1:p.Tyr56Cys | |
| NM_001353605.1:c.167A>G | NP_001340534.1:p.Tyr56Cys | |
| NM_001353606.1:c.167A>G | NP_001340535.1:p.Tyr56Cys | |
| NM_001353607.1:c.167A>G | NP_001340536.1:p.Tyr56Cys | |
| NM_001353608.1:c.167A>G | NP_001340537.1:p.Tyr56Cys | |
| NM_001353609.1:c.167A>G | NP_001340538.1:p.Tyr56Cys | |
| NM_001353610.1:c.167A>G | NP_001340539.1:p.Tyr56Cys | |
| NM_020324.2:c.479A>G | NP_064720.1:p.Tyr160Cys | |
| NM_020325.2:c.956A>G | NP_064730.1:p.Tyr319Cys | |
| NR_148466.1:n.1008A>G | ||
| NR_148467.1:n.789A>G | ||
| NR_148468.1:n.766A>G | ||
| NR_148469.1:n.1013A>G | ||
| NR_148470.1:n.975A>G | ||
| NR_148471.1:n.1013A>G | ||
| NR_148472.1:n.1062A>G | ||
| NR_148473.1:n.989A>G | ||
| NR_148474.1:n.1108A>G | ||
| XM_005267940.3:c.542A>G | XP_005267997.1:p.Tyr181Cys | |
| XM_005267942.4:c.542A>G | XP_005267999.1:p.Tyr181Cys | |
| XM_011537041.2:c.683A>G | XP_011535343.1:p.Tyr228Cys | |
| XM_017021531.2:c.956A>G | XP_016877020.1:p.Tyr319Cys | |
| XM_017021534.1:c.344A>G | XP_016877023.1:p.Tyr115Cys | |
| XM_017021539.1:c.167A>G | XP_016877028.1:p.Tyr56Cys | |
| XM_017021540.2:c.167A>G | XP_016877029.1:p.Tyr56Cys | |
| XM_017021541.2:c.167A>G | XP_016877030.1:p.Tyr56Cys | |
| XM_017021542.1:c.167A>G | XP_016877031.1:p.Tyr56Cys | |
| XM_024449675.1:c.569A>G | XP_024305443.1:p.Tyr190Cys | |
| XM_024449676.1:c.479A>G | XP_024305444.1:p.Tyr160Cys | |
| XM_024449677.1:c.479A>G | XP_024305445.1:p.Tyr160Cys | |
| XM_024449678.1:c.167A>G | XP_024305446.1:p.Tyr56Cys | |
| XM_024449679.1:c.167A>G | XP_024305447.1:p.Tyr56Cys | |
| XR_001750476.2:n.1031A>G | ||
| XR_001750478.2:n.1031A>G | ||
| XR_001750480.2:n.1031A>G | ||
| XR_001750481.2:n.1031A>G | ||
| XR_001750482.1:n.966A>G | ||
| XR_001750484.1:n.911A>G | ||
| XR_002957565.1:n.925A>G | ||
| XR_245710.4:n.1031A>G | ||
| XR_943500.3:n.1031A>G | ||
| NM_005050.4:c.956A>G MANE Select | NP_005041.1:p.Tyr319Cys | |
| NM_001353591.2:c.830A>G | NP_001340520.1:p.Tyr277Cys | |
| NM_001353592.2:c.830A>G | NP_001340521.1:p.Tyr277Cys | |
| NM_001353593.2:c.695A>G | NP_001340522.1:p.Tyr232Cys | |
| NM_001353594.2:c.644A>G | NP_001340523.1:p.Tyr215Cys | |
| NM_001353595.2:c.542A>G | NP_001340524.1:p.Tyr181Cys | |
| NM_001353596.2:c.542A>G | NP_001340525.1:p.Tyr181Cys | |
| NM_001353597.2:c.491A>G | NP_001340526.1:p.Tyr164Cys | |
| NM_001353598.2:c.479A>G | NP_001340527.1:p.Tyr160Cys | |
| NM_001353599.2:c.479A>G | NP_001340528.1:p.Tyr160Cys | |
| NM_001353600.2:c.479A>G | NP_001340529.1:p.Tyr160Cys | |
| NM_001353601.2:c.479A>G | NP_001340530.1:p.Tyr160Cys | |
| NM_001353602.2:c.167A>G | NP_001340531.1:p.Tyr56Cys | |
| NM_001353603.2:c.167A>G | NP_001340532.1:p.Tyr56Cys | |
| NM_001353604.2:c.167A>G | NP_001340533.1:p.Tyr56Cys | |
| NM_001353605.2:c.167A>G | NP_001340534.1:p.Tyr56Cys | |
| NM_001353606.2:c.167A>G | NP_001340535.1:p.Tyr56Cys | |
| NM_001353607.2:c.167A>G | NP_001340536.1:p.Tyr56Cys | |
| NM_001353608.2:c.167A>G | NP_001340537.1:p.Tyr56Cys | |
| NM_001353609.2:c.167A>G | NP_001340538.1:p.Tyr56Cys | |
| NM_001353610.2:c.167A>G | NP_001340539.1:p.Tyr56Cys | |
| NM_020324.3:c.479A>G | NP_064720.1:p.Tyr160Cys | |
| NM_020325.3:c.956A>G | NP_064730.1:p.Tyr319Cys | |
| NR_003256.3:n.850A>G | ||
| NR_148466.2:n.878A>G | ||
| NR_148467.2:n.659A>G | ||
| NR_148468.2:n.636A>G | ||
| NR_148469.2:n.883A>G | ||
| NR_148470.2:n.845A>G | ||
| NR_148471.2:n.883A>G | ||
| NR_148472.2:n.932A>G | ||
| NR_148473.2:n.859A>G | ||
| NR_148474.2:n.978A>G |