Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49219935T= , CM000679.2:g.49219935T= | GRCh38 |
| NC_000017.10:g.47297297T= , CM000679.1:g.47297297T= | GRCh37 |
| NC_000017.9:g.44652296T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225941.6:c.626T= MANE Select | ENSP00000225941.1:p.Phe209= | |
| ENST00000225941.5:c.626T= | ENSP00000225941.1:p.Phe209= | |
| ENST00000419580.6:c.608T= | ENSP00000406651.2:p.Phe203= | |
| ENST00000571035.1:c.78T= | ||
| ENST00000573347.5:c.141T= | ||
| XM_005257429.2:c.626T= | XP_005257486.1:p.Phe209= | |
| XM_011524873.1:c.626T= | XP_011523175.1:p.Phe209= | |
| XM_017024721.1:c.626T= | XP_016880210.1:p.Phe209= | |
| NM_016428.3:c.626T= MANE Select | NP_057512.2:p.Phe209= | |
| NM_001135186.2:c.608T= | NP_001128658.2:p.Phe203= |