Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286678A= , CM000683.2:g.44286678A= | GRCh38 |
| NC_000021.8:g.45706561A= , CM000683.1:g.45706561A= | GRCh37 |
| NC_000021.7:g.44530989A= | NCBI36 |
| NG_009556.1:g.5799A= , LRG_18:g.5799A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.254A= MANE Select | ENSP00000291582.5:p.Tyr85= | |
| ENST00000291582.5:c.254A= | ENSP00000291582.5:p.Tyr85= | |
| ENST00000527919.5:n.415A= | ||
| ENST00000530812.5:n.423A= | ||
| NM_000383.3:c.254A= | NP_000374.1:p.Tyr85= | |
| XM_011529551.1:c.254A= | XP_011527853.1:p.Tyr85= | |
| NM_000383.4:c.254A= MANE Select | NP_000374.1:p.Tyr85= |