Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15878779G>C , CM000681.2:g.15878779G>C | GRCh38 |
| NC_000019.9:g.15989589G>C , CM000681.1:g.15989589G>C | GRCh37 |
| NC_000019.8:g.15850589G>C | NCBI36 |
| NG_007971.2:g.24296C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001082.5:c.1555C>G MANE Select | NP_001073.3:p.Leu519Val |
| ENST00000221700.11:c.1555C>G MANE Select | ENSP00000221700.3:p.Leu519Val |
| NM_001082.4:c.1555C>G | NP_001073.3:p.Leu519Val |
| ENST00000011989.11:c.1555C>G | ENSP00000011989.8:p.Leu519Val |
| ENST00000221700.10:c.1555C>G | ENSP00000221700.3:p.Leu519Val |
| ENST00000392846.7:n.1498C>G | |
| ENST00000589654.2:c.343C>G |