Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371599T>G , CM000680.2:g.60371599T>G | GRCh38 |
| NC_000018.9:g.58038832T>G , CM000680.1:g.58038832T>G | GRCh37 |
| NC_000018.8:g.56189812T>G | NCBI36 |
| NG_016441.1:g.6170A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005912.3:c.751A>C MANE Select | NP_005903.2:p.Ile251Leu |
| ENST00000299766.5:c.751A>C MANE Select | ENSP00000299766.3:p.Ile251Leu |
| NM_005912.2:c.751A>C | NP_005903.2:p.Ile251Leu |
| ENST00000299766.4:c.751A>C | ENSP00000299766.3:p.Ile251Leu |