dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31398010G>C , CM000668.2:g.31398010G>C | GRCh38 |
| NC_000006.11:g.31365787G>C , CM000668.1:g.31365787G>C | GRCh37 |
| NC_000006.10:g.31473766G>C | NCBI36 |
| NG_034139.1:g.3232G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_241998.3:n.427+49C>G | ||
| NR_148222.1:n.417+2044C>G | ||
| NR_148223.1:n.450+49C>G |