dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5517909G>C , CM000673.2:g.5517909G>C | GRCh38 |
| NC_000011.9:g.5539139G>C , CM000673.1:g.5539139G>C | GRCh37 |
| NC_000011.8:g.5495715G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380259.7:c.982+72916C>G | ENSP00000369609.3:n.982+72916C>G | |
| ENST00000673910.1:c.-2+401C>G (UBQLNL) | ENSP00000501246.1:n.-2+401C>G | |
| ENST00000380259.6:c.-565+72916C>G (HBG2) | ENSP00000369609.2:n.-565+72916C>G | |
| XM_011520533.1:c.*113+401C>G (OLFM5P) | XP_011518835.1:n.*113+401C>G |