Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144404628G>A , CM000669.2:g.144404628G>A | GRCh38 |
| NC_000007.13:g.144101721G>A , CM000669.1:g.144101721G>A | GRCh37 |
| NC_000007.12:g.143732654G>A | NCBI36 |
| NG_028979.1:g.10600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467773.1:c.138C>T MANE Select | ENSP00000419457.1:p.Tyr46= | |
| ENST00000483238.5:c.138C>T | ENSP00000419565.1:p.Tyr46= | |
| NM_001080413.3:c.138C>T MANE Select | NP_001073882.3:p.Tyr46= | |
| XM_017011742.2:c.138C>T | XP_016867231.1:p.Tyr46= |