Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097473G>A , CM000663.2:g.40097473G>A | GRCh38 |
| NC_000001.10:g.40563145G>A , CM000663.1:g.40563145G>A | GRCh37 |
| NC_000001.9:g.40335732G>A | NCBI36 |
| NG_009192.1:g.4998C>T , LRG_690:g.4998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-235C>T | ENSP00000394863.3:n.-235C>T |