Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23119848G>T , CM000676.2:g.23119848G>T | GRCh38 |
| NC_000014.8:g.23589057G>T , CM000676.1:g.23589057G>T | GRCh37 |
| NC_000014.7:g.22658897G>T | NCBI36 |
| NG_009617.1:g.4418C>A , LRG_45:g.4418C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000696121.1:n.261+148C>A | |
| XM_011536359.1:c.73C>A | XP_011534661.1:p.Arg25Ser |