Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15878779G>T , CM000681.2:g.15878779G>T | GRCh38 |
| NC_000019.9:g.15989589G>T , CM000681.1:g.15989589G>T | GRCh37 |
| NC_000019.8:g.15850589G>T | NCBI36 |
| NG_007971.2:g.24296C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001082.5:c.1555C>A MANE Select | NP_001073.3:p.Leu519Met |
| ENST00000221700.11:c.1555C>A MANE Select | ENSP00000221700.3:p.Leu519Met |
| NM_001082.4:c.1555C>A | NP_001073.3:p.Leu519Met |
| ENST00000011989.11:c.1555C>A | ENSP00000011989.8:p.Leu519Met |
| ENST00000221700.10:c.1555C>A | ENSP00000221700.3:p.Leu519Met |
| ENST00000392846.7:n.1498C>A | |
| ENST00000589654.2:c.343C>A |