Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23898914C>T , CM000684.2:g.23898914C>T | GRCh38 |
| NC_000022.10:g.24241101C>T , CM000684.1:g.24241101C>T | GRCh37 |
| NC_000022.9:g.22571101C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038911.1:n.17G>A |