dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.78234779C>G , CM000675.2:g.78234779C>G | GRCh38 |
| NC_000013.10:g.78808914C>G , CM000675.1:g.78808914C>G | GRCh37 |
| NC_000013.9:g.77706915C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_047001.1:n.300-39474C>G |