Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030364G>T , CM000666.2:g.43030364G>T | GRCh38 |
| NC_000004.11:g.43032381G>T , CM000666.1:g.43032381G>T | GRCh37 |
| NC_000004.10:g.42727138G>T | NCBI36 |
| NG_027718.1:g.142099G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.697G>T MANE Select | NP_001073945.1:p.Val233Leu |
| ENST00000399770.3:c.697G>T MANE Select | ENSP00000382670.2:p.Val233Leu |
| NM_001080476.2:c.697G>T | NP_001073945.1:p.Val233Leu |
| ENST00000399770.2:c.697G>T | ENSP00000382670.2:p.Val233Leu |
| XM_011513691.1:c.334G>T | XP_011511993.1:p.Val112Leu |