Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.90008215A>G , CM000669.2:g.90008215A>G | GRCh38 |
| NC_000007.13:g.89637529A>G , CM000669.1:g.89637529A>G | GRCh37 |
| NC_000007.12:g.89475465A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_110029.2:n.425-125660T>C |