Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.85193571A>G , CM000672.2:g.85193571A>G | GRCh38 |
| NC_000010.10:g.86953327A>G , CM000672.1:g.86953327A>G | GRCh37 |
| NC_000010.9:g.86943307A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120667.1:n.1897T>C | ||
| NR_120668.1:n.1050T>C |