Linked Data
dbSNP Id:
rs377738242
ExAC:
6:160858066 C / T
gnomAD v2:
6-160858066-C-T
gnomAD v3:
6-160437034-C-T
gnomAD v4:
6-160437034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160437034C>T , CM000668.2:g.160437034C>T | GRCh38 |
| NC_000006.11:g.160858066C>T , CM000668.1:g.160858066C>T | GRCh37 |
| NC_000006.10:g.160778056C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275300.3:c.1111C>T MANE Select | ENSP00000275300.2:p.Arg371Cys | |
| ENST00000275300.2:c.1111C>T | ENSP00000275300.2:p.Arg371Cys | |
| NM_021977.3:c.1111C>T | NP_068812.1:p.Arg371Cys | |
| XM_005267106.3:c.718C>T | XP_005267163.1:p.Arg240Cys | |
| XM_011536075.1:c.655C>T | XP_011534377.1:p.Arg219Cys | |
| XM_011536076.1:c.655C>T | XP_011534378.1:p.Arg219Cys | |
| XM_011536077.1:c.655C>T | XP_011534379.1:p.Arg219Cys | |
| XR_245546.1:n.1018-5727C>T | ||
| XM_005267106.5:c.718C>T | XP_005267163.1:p.Arg240Cys | |
| XM_011536075.2:c.655C>T | XP_011534377.1:p.Arg219Cys | |
| XM_011536076.3:c.655C>T | XP_011534378.1:p.Arg219Cys | |
| XM_017011203.2:c.655C>T | XP_016866692.1:p.Arg219Cys | |
| XR_001743588.1:n.1055C>T | ||
| XR_001743589.1:n.1018-5727C>T | ||
| NM_021977.4:c.1111C>T MANE Select | NP_068812.1:p.Arg371Cys |