Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212124C>A , CM000670.2:g.23212124C>A | GRCh38 |
| NC_000008.10:g.23069637C>A , CM000670.1:g.23069637C>A | GRCh37 |
| NC_000008.9:g.23125582C>A | NCBI36 |
| NG_032107.1:g.18044G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.395G>T MANE Select | ENSP00000221132.3:p.Cys132Phe | |
| ENST00000221132.7:c.395G>T | ENSP00000221132.3:p.Cys132Phe | |
| ENST00000524158.5:c.-212G>T | ENSP00000428884.1:n.-212G>T | |
| ENST00000613472.1:c.32-9465G>T | ENSP00000480778.1:n.32-9465G>T | |
| NM_003844.3:c.395G>T | NP_003835.3:p.Cys132Phe | |
| NM_003844.4:c.395G>T MANE Select | NP_003835.3:p.Cys132Phe |