Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143424G= , CM000666.2:g.185143424G= | GRCh38 |
| NC_000004.11:g.186064578G= , CM000666.1:g.186064578G= | GRCh37 |
| NC_000004.10:g.186301572G= | NCBI36 |
| NG_013001.1:g.5162G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.52G= MANE Select | ENSP00000281456.5:p.Ala18= | |
| ENST00000281456.10:c.52G= | ENSP00000281456.5:p.Ala18= | |
| ENST00000491736.1:c.52G= | ENSP00000476711.1:p.Ala18= | |
| NM_001151.3:c.52G= | NP_001142.2:p.Ala18= | |
| NM_001151.4:c.52G= MANE Select | NP_001142.2:p.Ala18= |