Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10760298G>A , CM000673.2:g.10760298G>A | GRCh38 |
| NC_000011.9:g.10781845G>A , CM000673.1:g.10781845G>A | GRCh37 |
| NC_000011.8:g.10738421G>A | NCBI36 |
| NG_051671.1:g.14312G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361367.7:c.718G>A MANE Select | ENSP00000355013.2:p.Val240Ile | |
| ENST00000361367.6:c.718G>A | ENSP00000355013.2:p.Val240Ile | |
| ENST00000524523.1:c.679G>A | ENSP00000431458.1:p.Val227Ile | |
| NM_014633.4:c.718G>A | NP_055448.1:p.Val240Ile | |
| NM_001346279.1:c.718G>A | NP_001333208.1:p.Val240Ile | |
| NM_014633.5:c.718G>A MANE Select | NP_055448.1:p.Val240Ile | |
| NM_001346279.2:c.718G>A | NP_001333208.1:p.Val240Ile |