dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22718943G>T , CM000669.2:g.22718943G>T | GRCh38 |
| NC_000007.13:g.22758562G>T , CM000669.1:g.22758562G>T | GRCh37 |
| NC_000007.12:g.22725087G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650428.1:n.46+8625C>A |