Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097477A>T , CM000663.2:g.40097477A>T | GRCh38 |
| NC_000001.10:g.40563149A>T , CM000663.1:g.40563149A>T | GRCh37 |
| NC_000001.9:g.40335736A>T | NCBI36 |
| NG_009192.1:g.4994T>A , LRG_690:g.4994T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-239T>A | ENSP00000394863.3:n.-239T>A |