dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100219272A>C , CM000664.2:g.100219272A>C | GRCh38 |
| NC_000002.11:g.100835734A>C , CM000664.1:g.100835734A>C | GRCh37 |
| NC_000002.10:g.100202166A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_103730.1:n.567+10452A>C |