Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42023389C>A , CM000683.2:g.42023389C>A | GRCh38 |
| NC_000021.8:g.43443498C>A , CM000683.1:g.43443498C>A | GRCh37 |
| NC_000021.7:g.42316567C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_027273.2:n.163-917C>A | |
| NR_119384.1:n.392-917C>A | |
| NR_119385.1:n.209-917C>A |