Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.32028722G= , CM000677.2:g.32028722G= | GRCh38 |
| NC_000015.9:g.32320925G= , CM000677.1:g.32320925G= | GRCh37 |
| NC_000015.8:g.30108217G= | NCBI36 |
| NG_009216.1:g.3200G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635978.1:c.-42-72581G= | ENSP00000490778.1:n.-42-72581G= | |
| ENST00000636603.1:c.-131-2176G= | ENSP00000490513.1:n.-131-2176G= | |
| ENST00000637183.1:c.-43+50528G= | ENSP00000490365.1:n.-43+50528G= | |
| ENST00000638106.1:c.-378-2176G= | ENSP00000490413.1:n.-378-2176G= | |
| XM_011522320.1:c.573-115C= | XP_011520622.1:n.573-115C= | |
| XM_011522320.2:c.573-115C= | XP_011520622.1:n.573-115C= |