Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.786591G>T , CM000666.2:g.786591G>T | GRCh38 |
| NC_000004.11:g.780379G>T , CM000666.1:g.780379G>T | GRCh37 |
| NC_000004.10:g.770379G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.315C>A MANE Select | ENSP00000305613.6:p.Cys105Ter | |
| ENST00000304062.10:c.315C>A | ENSP00000305613.6:p.Cys105Ter | |
| ENST00000504062.1:c.270C>A | ENSP00000421947.1:p.Cys90Ter | |
| ENST00000505203.1:c.252C>A | ENSP00000425960.1:p.Cys84Ter | |
| ENST00000506404.1:n.368C>A | ||
| NM_006651.3:c.315C>A | NP_006642.1:p.Cys105Ter | |
| XM_011513391.1:c.270C>A | XP_011511693.1:p.Cys90Ter | |
| NM_006651.4:c.315C>A MANE Select | NP_006642.1:p.Cys105Ter |