Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524900G>A , CM000681.2:g.7524900G>A | GRCh38 |
| NC_000019.9:g.7589786G>A , CM000681.1:g.7589786G>A | GRCh37 |
| NC_000019.8:g.7495786G>A | NCBI36 |
| NG_015806.1:g.7291G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.32-61G>A MANE Select | ENSP00000264079.5:n.32-61G>A | |
| ENST00000264079.10:c.32-61G>A | ENSP00000264079.5:n.32-61G>A | |
| ENST00000394321.9:n.112-61G>A | ||
| ENST00000596390.1:n.148-61G>A | ||
| ENST00000601003.1:c.32-61G>A | ENSP00000469074.1:n.32-61G>A | |
| NM_020533.2:c.32-61G>A | NP_065394.1:n.32-61G>A | |
| XR_936293.1:n.55C>T | ||
| XR_936294.1:n.55C>T | ||
| XR_936295.1:n.55C>T | ||
| XR_936293.2:n.81C>T | ||
| XR_936294.2:n.81C>T | ||
| NM_020533.3:c.32-61G>A MANE Select | NP_065394.1:n.32-61G>A |