Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797716G>T , CM000678.2:g.8797716G>T | GRCh38 |
| NC_000016.9:g.8891573G>T , CM000678.1:g.8891573G>T | GRCh37 |
| NC_000016.8:g.8799074G>T | NCBI36 |
| NG_009209.1:g.4904G>T | |
| NG_033146.1:g.4933C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.-167G>T | ENSP00000507849.1:n.-167G>T | |
| ENST00000566983.5:c.-15-4083G>T | ENSP00000457956.1:n.-15-4083G>T |