Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84823302A>G , CM000677.2:g.84823302A>G | GRCh38 |
| NC_000015.9:g.85366533A>G , CM000677.1:g.85366533A>G | GRCh37 |
| NC_000015.8:g.83167537A>G | NCBI36 |
| NG_054748.1:g.11672A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020778.5:c.144-28A>G MANE Select | NP_065829.4:n.144-28A>G |
| ENST00000258888.6:c.144-28A>G MANE Select | ENSP00000258888.6:n.144-28A>G |
| NM_020778.4:c.750-28A>G | NP_065829.3:n.750-28A>G |
| ENST00000258888.5:c.750-28A>G | ENSP00000258888.5:n.750-28A>G |