Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323818C>A , CM000677.2:g.73323818C>A | GRCh38 |
| NC_000015.9:g.73616159C>A , CM000677.1:g.73616159C>A | GRCh37 |
| NC_000015.8:g.71403212C>A | NCBI36 |
| NG_009063.1:g.50447G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.2275G>T MANE Select | NP_005468.1:p.Val759Phe |
| ENST00000261917.4:c.2275G>T MANE Select | ENSP00000261917.3:p.Val759Phe |
| NM_005477.2:c.2275G>T | NP_005468.1:p.Val759Phe |
| ENST00000261917.3:c.2275G>T | ENSP00000261917.3:p.Val759Phe |
| XM_011521148.1:c.1057G>T | XP_011519450.1:p.Val353Phe |
| XM_011521148.2:c.1057G>T | XP_011519450.1:p.Val353Phe |