dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111449473C>G , CM000663.2:g.111449473C>G | GRCh38 |
| NC_000001.10:g.111992095C>G , CM000663.1:g.111992095C>G | GRCh37 |
| NC_000001.9:g.111793618C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369722.8:c.-69C>G MANE Select | ENSP00000358737.3:n.-69C>G | |
| ENST00000369721.8:n.9C>G | ||
| ENST00000369722.7:c.-69C>G | ENSP00000358737.3:n.-69C>G | |
| ENST00000493119.5:n.365C>G | ||
| NM_001688.4:c.-69C>G | NP_001679.2:n.-69C>G | |
| NM_001688.5:c.-69C>G MANE Select | NP_001679.2:n.-69C>G |