Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108878275C= , CM000674.2:g.108878275C= | GRCh38 |
| NC_000012.11:g.109272051C= , CM000674.1:g.109272051C= | GRCh37 |
| NC_000012.10:g.107796180C= | NCBI36 |
| NG_023236.1:g.3195C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000548052.5:n.349-1288C= | |
| ENST00000551281.5:c.-9-6723C= | ENSP00000446853.1:n.-9-6723C= |