Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097488G>C , CM000663.2:g.40097488G>C | GRCh38 |
| NC_000001.10:g.40563160G>C , CM000663.1:g.40563160G>C | GRCh37 |
| NC_000001.9:g.40335747G>C | NCBI36 |
| NG_009192.1:g.4983C>G , LRG_690:g.4983C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-250C>G | ENSP00000394863.3:n.-250C>G |