Linked Data
ClinVar Variation Id:
419534
dbSNP Id:
rs779626155
ExAC:
2:25463182 G / A
gnomAD v2:
2-25463182-G-A
gnomAD v3:
2-25240313-G-A
gnomAD v4:
2-25240313-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25240313G>A , CM000664.2:g.25240313G>A | GRCh38 |
| NC_000002.11:g.25463182G>A , CM000664.1:g.25463182G>A | GRCh37 |
| NC_000002.10:g.25316686G>A | NCBI36 |
| NG_029465.2:g.107278C>T , LRG_459:g.107278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.630C>T | ||
| ENST00000683393.1:c.1457C>T | ENSP00000508654.1:n.1457C>T | |
| ENST00000683760.1:c.1642C>T | ENSP00000507765.1:p.Arg548Ter | |
| ENST00000321117.10:c.2311C>T MANE Select | ENSP00000324375.5:p.Arg771Ter | |
| ENST00000264709.7:c.2311C>T | ENSP00000264709.3:p.Arg771Ter | |
| ENST00000321117.9:c.2311C>T | ENSP00000324375.5:p.Arg771Ter | |
| ENST00000380746.8:c.1744C>T | ENSP00000370122.4:p.Arg582Ter | |
| ENST00000380756.7:c.2311C>T | ENSP00000370132.3:p.Arg771Ter | |
| ENST00000402667.1:c.1642C>T | ENSP00000384237.1:p.Arg548Ter | |
| ENST00000461228.1:n.530C>T | ||
| ENST00000466601.5:n.683C>T | ||
| ENST00000474887.5:n.630C>T | ||
| ENST00000482935.5:n.311C>T | ||
| ENST00000491288.5:n.310+327C>T | ||
| NM_022552.4:c.2311C>T , LRG_459t1:c.2311C>T | NP_072046.2:p.Arg771Ter | |
| NM_153759.3:c.1744C>T , LRG_459t2:c.1744C>T | NP_715640.2:p.Arg582Ter | |
| NM_175629.2:c.2311C>T , LRG_459t4:c.2311C>T | NP_783328.1:p.Arg771Ter | |
| XM_005264175.3:c.2311C>T | XP_005264232.1:p.Arg771Ter | |
| XM_005264177.3:c.1642C>T | XP_005264234.1:p.Arg548Ter | |
| XM_006711957.2:c.2311C>T | XP_006712020.1:p.Arg771Ter | |
| XM_006711958.2:c.1867C>T | XP_006712021.1:p.Arg623Ter | |
| XM_011532662.1:c.2164C>T | XP_011530964.1:p.Arg722Ter | |
| XM_011532663.1:c.2146C>T | XP_011530965.1:p.Arg716Ter | |
| XM_011532664.1:c.2311C>T | XP_011530966.1:p.Arg771Ter | |
| XM_011532665.1:c.1855C>T | XP_011530967.1:p.Arg619Ter | |
| XM_011532666.1:c.1783C>T | XP_011530968.1:p.Arg595Ter | |
| XM_011532667.1:c.1642C>T | XP_011530969.1:p.Arg548Ter | |
| XM_011532668.1:c.2311C>T | XP_011530970.1:p.Arg771Ter | |
| NM_001320893.1:c.1855C>T | NP_001307822.1:p.Arg619Ter | |
| NR_135490.1:n.2649C>T | ||
| XM_005264175.5:c.2311C>T | XP_005264232.1:p.Arg771Ter | |
| XM_005264177.4:c.1642C>T | XP_005264234.1:p.Arg548Ter | |
| XM_011532662.2:c.2164C>T | XP_011530964.1:p.Arg722Ter | |
| XM_011532663.2:c.2146C>T | XP_011530965.1:p.Arg716Ter | |
| XM_011532664.2:c.2311C>T | XP_011530966.1:p.Arg771Ter | |
| XM_011532666.2:c.1783C>T | XP_011530968.1:p.Arg595Ter | |
| XM_011532667.3:c.1642C>T | XP_011530969.1:p.Arg548Ter | |
| XM_017003526.1:c.2311C>T | XP_016859015.1:p.Arg771Ter | |
| XM_017003527.1:c.1642C>T | XP_016859016.1:p.Arg548Ter | |
| XR_001738657.1:n.2588C>T | ||
| NM_001375819.1:c.1642C>T | NP_001362748.1:p.Arg548Ter | |
| NR_135490.2:n.2542C>T | ||
| NM_022552.5:c.2311C>T MANE Select | NP_072046.2:p.Arg771Ter |