Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12833779G= , CM000686.2:g.12833779G= | GRCh38 |
| NC_000024.9:g.14945705G= , CM000686.1:g.14945705G= | GRCh37 |
| NC_000024.8:g.13455099G= | NCBI36 |
| NG_008311.1:g.137546G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.5113G= MANE Select | NP_004645.2:p.Ala1705= |
| ENST00000338981.7:c.5113G= MANE Select | ENSP00000342812.3:p.Ala1705= |
| NM_004654.3:c.5113G= | NP_004645.2:p.Ala1705= |
| ENST00000426564.6:n.5125G= | |
| ENST00000651177.1:c.5113G= | ENSP00000498372.1:p.Ala1705= |
| XM_011531469.1:c.5113G= | XP_011529771.1:p.Ala1705= |
| XM_011531470.1:c.4879G= | XP_011529772.1:p.Ala1627= |
| XM_017030078.2:c.5128G= | XP_016885567.1:p.Ala1710= |