Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.81694033G>C , CM000671.2:g.81694033G>C | GRCh38 |
| NC_000009.11:g.84308948G>C , CM000671.1:g.84308948G>C | GRCh37 |
| NC_000009.10:g.83498768G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_109772.1:n.247+4074G>C |