Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22121549G= , CM000663.2:g.22121549G= | GRCh38 |
| NC_000001.10:g.22448042G= , CM000663.1:g.22448042G= | GRCh37 |
| NC_000001.9:g.22320629G= | NCBI36 |
| NG_008974.1:g.26478C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030761.5:c.341C= MANE Select | NP_110388.2:p.Ala114= |
| ENST00000290167.11:c.341C= MANE Select | ENSP00000290167.5:p.Ala114= |
| NM_030761.4:c.341C= | NP_110388.2:p.Ala114= |
| ENST00000290167.10:c.341C= | ENSP00000290167.5:p.Ala114= |
| XM_011541597.1:c.407C= | XP_011539899.1:p.Ala136= |
| XM_011541597.2:c.407C= | XP_011539899.1:p.Ala136= |
| XM_011541598.1:c.176C= | XP_011539900.1:p.Ala59= |
| XM_011541598.2:c.176C= | XP_011539900.1:p.Ala59= |