Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36860804G>C , CM000684.2:g.36860804G>C | GRCh38 |
| NC_000022.10:g.37256846G>C , CM000684.1:g.37256846G>C | GRCh37 |
| NC_000022.9:g.35586792G>C | NCBI36 |
| NG_023400.1:g.4817G>C , LRG_159:g.4817G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147197.1:n.351+9289C>G |