Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797653C>A , CM000678.2:g.8797653C>A | GRCh38 |
| NC_000016.9:g.8891510C>A , CM000678.1:g.8891510C>A | GRCh37 |
| NC_000016.8:g.8799011C>A | NCBI36 |
| NG_009209.1:g.4841C>A | |
| NG_033146.1:g.4996G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566983.5:c.-15-4146C>A | ENSP00000457956.1:n.-15-4146C>A |