Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7522782G= , CM000681.2:g.7522782G= | GRCh38 |
| NC_000019.9:g.7587668G= , CM000681.1:g.7587668G= | GRCh37 |
| NC_000019.8:g.7493668G= | NCBI36 |
| NG_015806.1:g.5173G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.31+1G= MANE Select | NP_065394.1:n.31+1G= |
| ENST00000264079.11:c.31+1G= MANE Select | ENSP00000264079.5:n.31+1G= |
| NM_020533.2:c.31+1G= | NP_065394.1:n.31+1G= |
| ENST00000264079.10:c.31+1G= | ENSP00000264079.5:n.31+1G= |
| ENST00000394321.9:n.111+1G= | |
| ENST00000596390.1:n.147+1G= | |
| ENST00000601003.1:c.31+1G= | ENSP00000469074.1:n.31+1G= |
| XR_936293.1:n.926+60C= | |
| XR_936293.2:n.952+60C= | |
| XR_936294.1:n.926+60C= | |
| XR_936294.2:n.952+60C= | |
| XR_936295.1:n.570+60C= |