Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38930903C>A , CM000681.2:g.38930903C>A | GRCh38 |
| NC_000019.9:g.39421543C>A , CM000681.1:g.39421543C>A | GRCh37 |
| NC_000019.8:g.44113383C>A | NCBI36 |
| NG_029222.1:g.5196C>A | |
| NG_031865.1:g.4994G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308018.8:c.-115C>A | ENSP00000308845.3:n.-115C>A | |
| ENST00000599996.1:c.476-4603G>T | ||
| NM_033362.3:c.-115C>A | NP_203526.1:n.-115C>A |