dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.87239348A>C , CM000663.2:g.87239348A>C | GRCh38 |
| NC_000001.10:g.87705031A>C , CM000663.1:g.87705031A>C | GRCh37 |
| NC_000001.9:g.87477619A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001290053.1:c.1-4267A>C | NP_001276982.1:n.1-4267A>C | |
| XM_011542525.1:c.403+12202A>C | XP_011540827.1:n.403+12202A>C | |
| XM_016999997.1:c.1-4267A>C | XP_016855486.1:n.1-4267A>C | |
| NR_167752.1:n.299-4267A>C |