Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475530G>A , CM000673.2:g.113475530G>A | GRCh38 |
| NC_000011.9:g.113346252G>A , CM000673.1:g.113346252G>A | GRCh37 |
| NC_000011.8:g.112851462G>A | NCBI36 |
| NG_008841.1:g.4750C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540600.5:n.34+128C>T | ||
| XR_948024.2:n.912C>T |