Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339526C= , CM000677.2:g.74339526C= | GRCh38 |
| NC_000015.9:g.74631867C= , CM000677.1:g.74631867C= | GRCh37 |
| NC_000015.8:g.72418920C= | NCBI36 |
| NG_007973.1:g.33216G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.1157+61G= MANE Select | ENSP00000268053.6:n.1157+61G= | |
| ENST00000268053.10:c.1157+61G= | ENSP00000268053.6:n.1157+61G= | |
| ENST00000358632.8:c.683+61G= | ENSP00000351455.4:n.683+61G= | |
| ENST00000435365.5:c.1157+61G= | ENSP00000391081.1:n.1157+61G= | |
| NM_000781.2:c.1157+61G= | NP_000772.2:n.1157+61G= | |
| NM_001099773.1:c.683+61G= | NP_001093243.1:n.683+61G= | |
| NM_000781.3:c.1157+61G= MANE Select | NP_000772.2:n.1157+61G= | |
| NM_001099773.2:c.683+61G= | NP_001093243.1:n.683+61G= |