dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2172367C>G , CM000673.2:g.2172367C>G | GRCh38 |
| NC_000011.9:g.2193597C>G , CM000673.1:g.2193597C>G | GRCh37 |
| NC_000011.8:g.2150173C>G | NCBI36 |
| NG_008128.1:g.4439G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011520335.2:c.-581G>C | XP_011518637.1:n.-581G>C |