Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147773370C= , CM000663.2:g.147773370C= | GRCh38 |
| NG_009369.2:g.5005G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005272951.3:c.-34+7297G= | XP_005273008.1:n.-34+7297G= | |
| XM_011509415.1:c.-2297G= | XP_011507717.1:n.-2297G= | |
| XR_922078.1:n.434-4191C= | ||
| XR_922079.1:n.434-4191C= | ||
| XM_005272951.4:c.-34+7297G= | XP_005273008.1:n.-34+7297G= | |
| XM_017001044.1:c.-2138G= | XP_016856533.1:n.-2138G= | |
| XR_922079.3:n.744-4191C= |