Linked Data
dbSNP Id:
rs3197999
ExAC:
3:49721532 G / A
gnomAD v2:
3-49721532-G-A
gnomAD v3:
3-49684099-G-A
gnomAD v4:
3-49684099-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49684099G>A , CM000665.2:g.49684099G>A | GRCh38 |
| NC_000003.11:g.49721532G>A , CM000665.1:g.49721532G>A | GRCh37 |
| NC_000003.10:g.49696536G>A | NCBI36 |
| NG_011438.1:g.15098G>A | |
| NG_016454.1:g.9665C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449682.3:c.2107C>T MANE Select | ENSP00000414287.2:p.Arg703Cys | |
| ENST00000448220.5:c.515C>T | ||
| ENST00000449682.2:c.2107C>T | ENSP00000414287.2:p.Arg703Cys | |
| ENST00000479115.5:n.2162C>T | ||
| ENST00000488350.6:n.4029C>T | ||
| ENST00000492329.5:n.1883C>T | ||
| ENST00000493836.5:n.873C>T | ||
| NM_020998.3:c.2107C>T | NP_066278.3:p.Arg703Cys | |
| XM_006713166.1:c.1972C>T | XP_006713229.1:p.Arg658Cys | |
| XM_011533730.1:c.2242C>T | XP_011532032.1:p.Arg748Cys | |
| XM_011533731.1:c.2149C>T | XP_011532033.1:p.Arg717Cys | |
| XM_011533732.1:c.2143C>T | XP_011532034.1:p.Arg715Cys | |
| XM_011533733.1:c.*27C>T | XP_011532035.1:n.*27C>T | |
| XR_427270.2:n.3039C>T | ||
| XR_427271.1:n.2990C>T | ||
| XR_427273.1:n.2895C>T | ||
| XR_427274.2:n.2940C>T | ||
| XR_940425.1:n.3035C>T | ||
| XR_940426.1:n.3075C>T | ||
| XR_940427.1:n.2940C>T | ||
| NR_146060.1:n.2060C>T | ||
| XM_006713166.2:c.1972C>T | XP_006713229.1:p.Arg658Cys | |
| XM_011533732.2:c.2143C>T | XP_011532034.1:p.Arg715Cys | |
| XM_017006460.2:c.2086C>T | XP_016861949.1:p.Arg696Cys | |
| XM_017006461.2:c.2050C>T | XP_016861950.1:p.Arg684Cys | |
| XM_017006462.2:c.*27C>T | XP_016861951.1:n.*27C>T | |
| XM_017006463.2:c.*27C>T | XP_016861952.1:n.*27C>T | |
| XM_017006464.2:c.*27C>T | XP_016861953.1:n.*27C>T | |
| XR_001740149.2:n.2207C>T | ||
| XR_001740150.2:n.2204C>T | ||
| XR_001740151.2:n.2247C>T | ||
| XR_001740152.2:n.2162C>T | ||
| XR_001740153.2:n.2208C>T | ||
| XR_002959536.1:n.2162C>T | ||
| XR_427273.2:n.2166C>T | ||
| XR_940427.2:n.2211C>T | ||
| NM_001393581.1:c.2143C>T | NP_001380510.1:p.Arg715Cys | |
| NM_001393582.1:c.2050C>T | NP_001380511.1:p.Arg684Cys | |
| NM_001393583.1:c.2017C>T | NP_001380512.1:p.Arg673Cys | |
| NM_001393584.1:c.1972C>T | NP_001380513.1:p.Arg658Cys | |
| NM_001393585.1:c.1807C>T | NP_001380514.1:p.Arg603Cys | |
| NM_020998.4:c.2107C>T MANE Select | NP_066278.3:p.Arg703Cys | |
| NR_146060.2:n.2771C>T |