Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797649C>T , CM000678.2:g.8797649C>T | GRCh38 |
| NC_000016.9:g.8891506C>T , CM000678.1:g.8891506C>T | GRCh37 |
| NC_000016.8:g.8799007C>T | NCBI36 |
| NG_009209.1:g.4837C>T | |
| NG_033146.1:g.5000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566983.5:c.-15-4150C>T | ENSP00000457956.1:n.-15-4150C>T |