Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94029567G>T , CM000663.2:g.94029567G>T | GRCh38 |
| NC_000001.10:g.94495123G>T , CM000663.1:g.94495123G>T | GRCh37 |
| NC_000001.9:g.94267711G>T | NCBI36 |
| NG_009073.1:g.96583C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4417C>A MANE Select | NP_000341.2:p.Leu1473Met |
| ENST00000370225.4:c.4417C>A MANE Select | ENSP00000359245.3:p.Leu1473Met |
| NM_000350.2:c.4417C>A | NP_000341.2:p.Leu1473Met |
| ENST00000370225.3:c.4417C>A | ENSP00000359245.3:p.Leu1473Met |
| ENST00000536513.5:c.793C>A | ENSP00000439707.2:p.Leu265Met |