Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99329262C>A , CM000666.2:g.99329262C>A | GRCh38 |
| NC_000004.11:g.100250419C>A , CM000666.1:g.100250419C>A | GRCh37 |
| NC_000004.10:g.100469442C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000639454.1:c.19-10376G>T | ENSP00000491622.1:n.19-10376G>T |