Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128318984A>C , CM000667.2:g.128318984A>C | GRCh38 |
| NC_000005.9:g.127654676A>C , CM000667.1:g.127654676A>C | GRCh37 |
| NC_000005.8:g.127682575A>C | NCBI36 |
| NG_008750.1:g.224060T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.4489T>G MANE Select | NP_001990.2:p.Phe1497Val |
| ENST00000262464.9:c.4489T>G MANE Select | ENSP00000262464.4:p.Phe1497Val |
| NM_001999.3:c.4489T>G | NP_001990.2:p.Phe1497Val |
| ENST00000262464.8:c.4489T>G | ENSP00000262464.4:p.Phe1497Val |
| ENST00000508053.5:c.4489T>G | ENSP00000424571.1:p.Phe1497Val |
| ENST00000619499.4:c.4486T>G | ENSP00000482132.1:p.Phe1496Val |
| ENST00000703783.1:n.1273T>G | |
| ENST00000703785.1:n.1354T>G | |
| XM_017009228.2:c.4336T>G | XP_016864717.1:p.Phe1446Val |