dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135227467C>G , CM000667.2:g.135227467C>G | GRCh38 |
| NC_000005.9:g.134563157C>G , CM000667.1:g.134563157C>G | GRCh37 |
| NC_000005.8:g.134591056C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001277348.1:c.-362+53295C>G | NP_001264277.1:n.-362+53295C>G | |
| NR_161235.1:n.467+53295C>G |