Linked Data
dbSNP Id:
rs1184821004
gnomAD v2:
8-128750716-T-C
gnomAD v3:
8-127738470-T-C
gnomAD v4:
8-127738470-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127738470T>C , CM000670.2:g.127738470T>C | GRCh38 |
| NC_000008.10:g.128750716T>C , CM000670.1:g.128750716T>C | GRCh37 |
| NC_000008.9:g.128819898T>C | NCBI36 |
| NG_007161.1:g.7401T>C | |
| NG_007161.2:g.8037T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707113.1:c.208T>C | ENSP00000516742.1:p.Cys70Arg | |
| ENST00000707114.1:c.208T>C | ENSP00000516743.1:p.Cys70Arg | |
| ENST00000707115.1:c.208T>C | ENSP00000516744.1:p.Cys70Arg | |
| ENST00000707116.1:c.208T>C | ENSP00000516745.1:p.Cys70Arg | |
| ENST00000517291.2:c.250T>C | ENSP00000429441.2:p.Cys84Arg | |
| ENST00000524013.2:c.250T>C | ENSP00000430235.2:p.Cys84Arg | |
| ENST00000621592.8:c.253T>C MANE Select | ENSP00000478887.2:p.Cys85Arg | |
| ENST00000651626.1:c.-93T>C | ENSP00000499182.1:n.-93T>C | |
| ENST00000652288.1:c.208T>C | ENSP00000499105.1:p.Cys70Arg | |
| ENST00000259523.10:c.208T>C | ENSP00000259523.6:p.Cys70Arg | |
| ENST00000377970.6:c.208T>C | ENSP00000367207.3:p.Cys70Arg | |
| ENST00000517291.1:c.250T>C | ENSP00000429441.1:p.Cys84Arg | |
| ENST00000520751.1:c.174T>C | ENSP00000430226.1:p.Ser58= | |
| ENST00000524013.1:c.250T>C | ENSP00000430235.1:p.Cys84Arg | |
| ENST00000613283.1:c.253T>C | ENSP00000479618.1:p.Cys85Arg | |
| ENST00000621592.5:c.253T>C | ENSP00000478887.1:p.Cys85Arg | |
| NM_002467.4:c.253T>C | NP_002458.2:p.Cys85Arg | |
| NM_001354870.1:c.250T>C | NP_001341799.1:p.Cys84Arg | |
| NM_002467.5:c.253T>C | NP_002458.2:p.Cys85Arg | |
| NM_002467.6:c.253T>C MANE Select | NP_002458.2:p.Cys85Arg |