Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45921476G>A , CM000669.2:g.45921476G>A | GRCh38 |
| NC_000007.13:g.45961075G>A , CM000669.1:g.45961075G>A | GRCh37 |
| NC_000007.12:g.45927600G>A | NCBI36 |
| NG_011508.1:g.4797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448817.1:c.73+151C>T | ENSP00000389668.1:n.73+151C>T |