Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9834503G>C , CM000681.2:g.9834503G>C | GRCh38 |
| NC_000019.9:g.9945179G>C , CM000681.1:g.9945179G>C | GRCh37 |
| NC_000019.8:g.9806179G>C | NCBI36 |
| NG_029167.1:g.4297G>C , LRG_847:g.4297G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_158942.2:n.460C>G | ||
| XR_158942.3:n.416C>G |