Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137086789G>C , CM000671.2:g.137086789G>C | GRCh38 |
| NC_000009.11:g.139981241G>C , CM000671.1:g.139981241G>C | GRCh37 |
| NC_000009.10:g.139101062G>C | NCBI36 |
| NG_031978.1:g.4863G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027447.1:n.29C>G |