Linked Data
dbSNP Id:
rs759639321
ExAC:
20:31981848 A / G
gnomAD v3:
20-33394042-A-G
gnomAD v4:
20-33394042-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33394042A>G , CM000682.2:g.33394042A>G | GRCh38 |
| NC_000020.10:g.31981848A>G , CM000682.1:g.31981848A>G | GRCh37 |
| NC_000020.9:g.31445509A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346416.7:c.433T>C MANE Select | ENSP00000217372.2:p.Cys145Arg | |
| ENST00000339269.5:c.433T>C | ENSP00000341840.5:p.Cys145Arg | |
| ENST00000346416.6:c.433T>C | ENSP00000217372.2:p.Cys145Arg | |
| ENST00000357886.8:c.433T>C | ENSP00000350558.4:p.Cys145Arg | |
| ENST00000460043.5:n.82-1800T>C | ||
| ENST00000461356.5:n.84T>C | ||
| ENST00000471264.5:n.26-1800T>C | ||
| ENST00000473997.5:c.163T>C | ENSP00000476857.1:p.Cys55Arg | |
| ENST00000477105.5:n.207T>C | ||
| ENST00000481964.5:n.77T>C | ||
| ENST00000482967.5:n.77+7386T>C | ||
| ENST00000488723.1:n.97-1800T>C | ||
| ENST00000496381.5:n.51+7386T>C | ||
| NM_001278167.1:c.433T>C | NP_001265096.1:p.Cys145Arg | |
| NM_001278168.1:c.433T>C | NP_001265097.1:p.Cys145Arg | |
| NM_001278169.1:c.352T>C | NP_001265098.1:p.Cys118Arg | |
| NM_016082.4:c.436T>C | NP_057166.4:p.Cys146Arg | |
| NM_016408.3:c.433T>C | NP_057492.2:p.Cys145Arg | |
| XM_011528855.1:c.352T>C | XP_011527157.1:p.Cys118Arg | |
| XM_011528856.1:c.132-1800T>C | XP_011527158.1:n.132-1800T>C | |
| XM_011528857.1:c.103T>C | XP_011527159.1:p.Cys35Arg | |
| XM_011528858.1:c.52T>C | XP_011527160.1:p.Cys18Arg | |
| XM_011528859.1:c.52T>C | XP_011527161.1:p.Cys18Arg | |
| XM_011528860.1:c.-119T>C | XP_011527162.1:n.-119T>C | |
| XR_936548.1:n.696T>C | ||
| XR_936549.1:n.696T>C | ||
| NM_001365728.1:c.433T>C | NP_001352657.1:p.Cys145Arg | |
| XM_011528856.3:c.132-1800T>C | XP_011527158.1:n.132-1800T>C | |
| XM_011528857.2:c.103T>C | XP_011527159.1:p.Cys35Arg | |
| XM_011528859.2:c.52T>C | XP_011527161.1:p.Cys18Arg | |
| XM_017027876.2:c.-119T>C | XP_016883365.1:n.-119T>C | |
| XM_024451892.1:c.-124T>C | XP_024307660.1:n.-124T>C | |
| XM_024451893.1:c.-117T>C | XP_024307661.1:n.-117T>C | |
| XM_024451894.1:c.-124T>C | XP_024307662.1:n.-124T>C | |
| XM_024451895.1:c.-124T>C | XP_024307663.1:n.-124T>C | |
| XM_024451896.1:c.-119T>C | XP_024307664.1:n.-119T>C | |
| XM_024451897.1:c.-108-1800T>C | XP_024307665.1:n.-108-1800T>C | |
| XR_001754289.2:n.554T>C | ||
| XR_001754290.2:n.554T>C | ||
| NM_016408.4:c.433T>C MANE Select | NP_057492.2:p.Cys145Arg | |
| NM_001278167.2:c.433T>C | NP_001265096.1:p.Cys145Arg | |
| NM_001278168.2:c.433T>C | NP_001265097.1:p.Cys145Arg |