Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7522691G= , CM000681.2:g.7522691G= | GRCh38 |
| NC_000019.9:g.7587577G= , CM000681.1:g.7587577G= | GRCh37 |
| NC_000019.8:g.7493577G= | NCBI36 |
| NG_015806.1:g.5082G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.-60G= MANE Select | ENSP00000264079.5:n.-60G= | |
| ENST00000264079.10:c.-60G= | ENSP00000264079.5:n.-60G= | |
| ENST00000394321.9:n.21G= | ||
| ENST00000596390.1:n.57G= | ||
| ENST00000601003.1:c.-60G= | ENSP00000469074.1:n.-60G= | |
| NM_020533.2:c.-60G= | NP_065394.1:n.-60G= | |
| XR_936293.1:n.926+151C= | ||
| XR_936294.1:n.926+151C= | ||
| XR_936295.1:n.570+151C= | ||
| XR_936293.2:n.952+151C= | ||
| XR_936294.2:n.952+151C= | ||
| NM_020533.3:c.-60G= MANE Select | NP_065394.1:n.-60G= |