Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191809G= , CM000670.2:g.23191809G= | GRCh38 |
| NC_000008.10:g.23049322G= , CM000670.1:g.23049322G= | GRCh37 |
| NC_000008.9:g.23105267G= | NCBI36 |
| NG_032107.1:g.38359C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1292C= MANE Select | ENSP00000221132.3:p.Ala431= | |
| ENST00000221132.7:c.1292C= | ENSP00000221132.3:p.Ala431= | |
| ENST00000613472.1:c.818C= | ENSP00000480778.1:p.Ala273= | |
| NM_003844.3:c.1292C= | NP_003835.3:p.Ala431= | |
| NM_003844.4:c.1292C= MANE Select | NP_003835.3:p.Ala431= |