dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2003314G>C , CM000673.2:g.2003314G>C | GRCh38 |
| NC_000011.9:g.2024544G>C , CM000673.1:g.2024544G>C | GRCh37 |
| NC_000011.8:g.1981120G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011520273.1:c.498-8227G>C | XP_011518575.1:n.498-8227G>C | |
| XM_011520274.1:c.492-8227G>C | XP_011518576.1:n.492-8227G>C | |
| XM_011520275.1:c.498-8227G>C | XP_011518577.1:n.498-8227G>C | |
| XM_011520275.2:c.498-8227G>C | XP_011518577.1:n.498-8227G>C | |
| NM_001400176.1:c.498-8227G>C | NP_001387105.1:n.498-8227G>C |