Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030462C>A , CM000666.2:g.43030462C>A | GRCh38 |
| NC_000004.11:g.43032479C>A , CM000666.1:g.43032479C>A | GRCh37 |
| NC_000004.10:g.42727236C>A | NCBI36 |
| NG_027718.1:g.142197C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.795C>A MANE Select | NP_001073945.1:p.Phe265Leu |
| ENST00000399770.3:c.795C>A MANE Select | ENSP00000382670.2:p.Phe265Leu |
| NM_001080476.2:c.795C>A | NP_001073945.1:p.Phe265Leu |
| ENST00000399770.2:c.795C>A | ENSP00000382670.2:p.Phe265Leu |
| XM_011513691.1:c.432C>A | XP_011511993.1:p.Phe144Leu |