dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269316A>C , CM000666.2:g.6269316A>C | GRCh38 |
| NC_000004.11:g.6271043A>C , CM000666.1:g.6271043A>C | GRCh37 |
| NC_000004.10:g.6321944A>C | NCBI36 |
| NG_011700.1:g.4467A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017008586.1:c.4+7677A>C | XP_016864075.1:n.4+7677A>C |