Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94079341G= , CM000663.2:g.94079341G= | GRCh38 |
| NC_000001.10:g.94544897G= , CM000663.1:g.94544897G= | GRCh37 |
| NC_000001.9:g.94317485G= | NCBI36 |
| NG_009073.1:g.46809C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1220C= MANE Select | ENSP00000359245.3:p.Ala407= | |
| ENST00000649773.1:c.1220C= | ENSP00000496882.1:p.Ala407= | |
| ENST00000370225.3:c.1220C= | ENSP00000359245.3:p.Ala407= | |
| NM_000350.2:c.1220C= | NP_000341.2:p.Ala407= | |
| NM_000350.3:c.1220C= MANE Select | NP_000341.2:p.Ala407= |