Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060730C>A , CM000681.2:g.49060730C>A | GRCh38 |
| NC_000019.9:g.49563987C>A , CM000681.1:g.49563987C>A | GRCh37 |
| NC_000019.8:g.54255799C>A | NCBI36 |
| NG_016289.1:g.8138G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599795.5:c.243+1025G>T | ENSP00000470689.1:n.243+1025G>T | |
| XM_011527575.1:c.23G>T | XP_011525877.1:p.Gly8Val | |
| XR_001753693.1:n.879+434G>T | ||
| XR_001753694.1:n.959G>T |