Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47868938C>A , CM000681.2:g.47868938C>A | GRCh38 |
| NC_000019.9:g.48372195C>A , CM000681.1:g.48372195C>A | GRCh37 |
| NC_000019.8:g.53064007C>A | NCBI36 |
| NG_016745.1:g.22460G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_936005.1:n.320+102G>T | |
| XR_936005.2:n.322+102G>T | |
| XR_936006.1:n.320+102G>T | |
| XR_936006.2:n.322+102G>T |