Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.159998234A>G , CM000665.2:g.159998234A>G | GRCh38 |
| NC_000003.11:g.159716021A>G , CM000665.1:g.159716021A>G | GRCh37 |
| NC_000003.10:g.161198715A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_108088.1:n.823-129T>C |