Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9834678C>T , CM000681.2:g.9834678C>T | GRCh38 |
| NC_000019.9:g.9945354C>T , CM000681.1:g.9945354C>T | GRCh37 |
| NC_000019.8:g.9806354C>T | NCBI36 |
| NG_029167.1:g.4472C>T , LRG_847:g.4472C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_158942.2:n.285G>A | |
| XR_158942.3:n.241G>A |