Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17376132C>A , CM000685.2:g.17376132C>A | GRCh38 |
| NC_000023.10:g.17394255C>A , CM000685.1:g.17394255C>A | GRCh37 |
| NC_000023.9:g.17304176C>A | NCBI36 |
| NG_011553.2:g.5713C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001291867.2:c.375C>A MANE Select | NP_001278796.1:p.Cys125Ter |
| ENST00000676302.1:c.375C>A MANE Select | ENSP00000502262.1:p.Cys125Ter |
| NM_001291867.1:c.375C>A | NP_001278796.1:p.Cys125Ter |
| NM_198270.3:c.375C>A | NP_938011.1:p.Cys125Ter |
| NM_198270.4:c.375C>A | NP_938011.1:p.Cys125Ter |
| ENST00000380060.7:c.375C>A | ENSP00000369400.3:p.Cys125Ter |