Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55707385T>G , CM000678.2:g.55707385T>G | GRCh38 |
| NC_000016.9:g.55741297T>G , CM000678.1:g.55741297T>G | GRCh37 |
| NC_000016.8:g.54298798T>G | NCBI36 |
| NG_016969.1:g.56756T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000682050.1:c.*5592T>G | ENSP00000508367.1:n.*5592T>G |