Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50384211C>G , CM000681.2:g.50384211C>G | GRCh38 |
| NC_000019.9:g.50887468C>G , CM000681.1:g.50887468C>G | GRCh37 |
| NC_000019.8:g.55579280C>G | NCBI36 |
| NG_033800.1:g.4889C>G , LRG_785:g.4889C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000600859.5:c.-181C>G | ENSP00000470726.1:n.-181C>G |