Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127448159A>G , CM000670.2:g.127448159A>G | GRCh38 |
| NC_000008.10:g.128460404A>G , CM000670.1:g.128460404A>G | GRCh37 |
| NC_000008.9:g.128529586A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_024393.1:n.1042-4439T>C | |
| NR_117100.1:n.1042-27196T>C |