Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594609T>A , CM000679.2:g.56594609T>A | GRCh38 |
| NC_000017.10:g.54671970T>A , CM000679.1:g.54671970T>A | GRCh37 |
| NC_000017.9:g.52026969T>A | NCBI36 |
| NG_011958.1:g.5911T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005450.6:c.386T>A MANE Select | NP_005441.1:p.Leu129Ter |
| ENST00000332822.6:c.386T>A MANE Select | ENSP00000328181.4:p.Leu129Ter |
| NM_005450.4:c.386T>A | NP_005441.1:p.Leu129Ter |
| ENST00000332822.4:c.386T>A | ENSP00000328181.4:p.Leu129Ter |