Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030460T>C , CM000666.2:g.43030460T>C | GRCh38 |
| NC_000004.11:g.43032477T>C , CM000666.1:g.43032477T>C | GRCh37 |
| NC_000004.10:g.42727234T>C | NCBI36 |
| NG_027718.1:g.142195T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.793T>C MANE Select | NP_001073945.1:p.Phe265Leu |
| ENST00000399770.3:c.793T>C MANE Select | ENSP00000382670.2:p.Phe265Leu |
| NM_001080476.2:c.793T>C | NP_001073945.1:p.Phe265Leu |
| ENST00000399770.2:c.793T>C | ENSP00000382670.2:p.Phe265Leu |
| XM_011513691.1:c.430T>C | XP_011511993.1:p.Phe144Leu |