Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797742T>A , CM000678.2:g.8797742T>A | GRCh38 |
| NC_000016.9:g.8891599T>A , CM000678.1:g.8891599T>A | GRCh37 |
| NC_000016.8:g.8799100T>A | NCBI36 |
| NG_009209.1:g.4930T>A | |
| NG_033146.1:g.4907A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.-141T>A | ENSP00000507849.1:n.-141T>A | |
| ENST00000566983.5:c.-15-4057T>A | ENSP00000457956.1:n.-15-4057T>A |