Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531019G= , CM000665.2:g.129531019G= | GRCh38 |
| NC_000003.11:g.129249862G= , CM000665.1:g.129249862G= | GRCh37 |
| NC_000003.10:g.130732552G= | NCBI36 |
| NG_009115.1:g.7381G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.505G= MANE Select | ENSP00000296271.3:p.Ala169= | |
| ENST00000296271.3:c.505G= | ENSP00000296271.3:p.Ala169= | |
| NM_000539.3:c.505G= MANE Select | NP_000530.1:p.Ala169= |