Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532541G>A , CM000664.2:g.102532541G>A | GRCh38 |
| NC_000002.11:g.103149000G>A , CM000664.1:g.103149000G>A | GRCh37 |
| NC_000002.10:g.102515432G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295269.5:c.2250G>A MANE Select | ENSP00000295269.4:p.Leu750= | |
| ENST00000295269.4:c.2250G>A | ENSP00000295269.4:p.Leu750= | |
| NM_001011552.3:c.2250G>A | NP_001011552.2:p.Leu750= | |
| XM_011511158.1:c.2163G>A | XP_011509460.1:p.Leu721= | |
| NM_001011552.4:c.2250G>A MANE Select | NP_001011552.2:p.Leu750= |