dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29881842G>C , CM000668.2:g.29881842G>C | GRCh38 |
| NC_000006.11:g.29849619G>C , CM000668.1:g.29849619G>C | GRCh37 |
| NC_000006.10:g.29957598G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647952.1:n.2062+1712C>G | ||
| XR_926683.1:n.182-3957C>G |