Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117832139C= , CM000673.2:g.117832139C= | GRCh38 |
| NC_000011.9:g.117702854C= , CM000673.1:g.117702854C= | GRCh37 |
| NC_000011.8:g.117208064C= | NCBI36 |
| NG_011543.1:g.954G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532984.1:c.272+7642G= | ENSP00000463024.1:n.272+7642G= | |
| ENST00000614497.5:c.259+7642G= | ENSP00000482442.1:n.259+7642G= | |
| NM_001204268.1:c.259+7642G= | NP_001191197.1:n.259+7642G= | |
| NM_001243598.2:c.272+7642G= | NP_001230527.1:n.272+7642G= | |
| NM_001204268.2:c.259+7642G= | NP_001191197.1:n.259+7642G= | |
| NM_001243598.3:c.272+7642G= | NP_001230527.1:n.272+7642G= | |
| NM_001204268.3:c.259+7642G= | NP_001191197.1:n.259+7642G= | |
| NM_001243598.4:c.272+7642G= | NP_001230527.1:n.272+7642G= |