Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206933133G= , CM000663.2:g.206933133G= | GRCh38 |
| NC_000001.10:g.207106478G= , CM000663.1:g.207106478G= | GRCh37 |
| NC_000001.9:g.205173101G= | NCBI36 |
| NG_012927.1:g.18334C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356495.5:c.1739C= MANE Select | ENSP00000348888.4:p.Ala580= | |
| ENST00000356495.4:c.1739C= | ENSP00000348888.4:p.Ala580= | |
| NM_002644.3:c.1739C= | NP_002635.2:p.Ala580= | |
| XM_011509629.1:c.1739C= | XP_011507931.1:p.Ala580= | |
| NM_002644.4:c.1739C= MANE Select | NP_002635.2:p.Ala580= |