Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097476A>C , CM000663.2:g.40097476A>C | GRCh38 |
| NC_000001.10:g.40563148A>C , CM000663.1:g.40563148A>C | GRCh37 |
| NC_000001.9:g.40335735A>C | NCBI36 |
| NG_009192.1:g.4995T>G , LRG_690:g.4995T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-238T>G | ENSP00000394863.3:n.-238T>G |