Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022554G= , CM000679.2:g.5022554G= | GRCh38 |
| NC_000017.10:g.4925849G= , CM000679.1:g.4925849G= | GRCh37 |
| NC_000017.9:g.4866573G= | NCBI36 |
| NG_034137.1:g.29607G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2473G= MANE Select | ENSP00000320821.5:p.Ala825= | |
| ENST00000320785.9:c.2473G= | ENSP00000320821.5:p.Ala825= | |
| NM_006612.5:c.2473G= | NP_006603.2:p.Ala825= | |
| XM_005256424.1:c.2473G= | XP_005256481.1:p.Ala825= | |
| XM_005256424.2:c.2473G= | XP_005256481.1:p.Ala825= | |
| NM_006612.6:c.2473G= MANE Select | NP_006603.2:p.Ala825= |