Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32690578C= , CM000681.2:g.32690578C= | GRCh38 |
| NC_000019.9:g.33181484C= , CM000681.1:g.33181484C= | GRCh37 |
| NC_000019.8:g.37873324C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_005258925.3:c.192+17105C= | XP_005258982.1:n.192+17105C= |
| XR_935915.1:n.397+785G= |