Linked Data
dbSNP Id:
rs747519435
ExAC:
17:29325781 C / T
gnomAD v2:
17-29325781-C-T
gnomAD v3:
17-30998763-C-T
gnomAD v4:
17-30998763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30998763C>T , CM000679.2:g.30998763C>T | GRCh38 |
| NC_000017.10:g.29325781C>T , CM000679.1:g.29325781C>T | GRCh37 |
| NC_000017.9:g.26349907C>T | NCBI36 |
| NG_011701.1:g.32826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328381.10:c.871C>T MANE Select | ENSP00000328340.5:p.Arg291Cys | |
| ENST00000324689.8:c.*75C>T | ENSP00000323693.4:n.*75C>T | |
| ENST00000328381.9:c.871C>T | ENSP00000328340.5:p.Arg291Cys | |
| ENST00000443677.6:c.*75C>T | ENSP00000411965.2:n.*75C>T | |
| ENST00000535306.6:c.*75C>T | ENSP00000440470.2:n.*75C>T | |
| NM_001184992.1:c.*75C>T | NP_001171921.1:n.*75C>T | |
| NM_032322.3:c.871C>T | NP_115698.3:p.Arg291Cys | |
| NM_197939.1:c.*75C>T | NP_922921.1:n.*75C>T | |
| XM_005258043.3:c.328C>T | XP_005258100.1:p.Arg110Cys | |
| XM_006722138.2:c.550C>T | XP_006722201.1:p.Arg184Cys | |
| XM_017025223.1:c.328C>T | XP_016880712.1:p.Arg110Cys | |
| XM_024451000.1:c.328C>T | XP_024306768.1:p.Arg110Cys | |
| XM_024451001.1:c.328C>T | XP_024306769.1:p.Arg110Cys | |
| XR_002958077.1:n.1139C>T | ||
| NM_032322.4:c.871C>T MANE Select | NP_115698.3:p.Arg291Cys | |
| NM_001184992.2:c.*75C>T | NP_001171921.1:n.*75C>T | |
| NM_197939.2:c.*75C>T | NP_922921.1:n.*75C>T |