dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20921188C>G , CM000674.2:g.20921188C>G | GRCh38 |
| NC_000012.11:g.21074122C>G , CM000674.1:g.21074122C>G | GRCh37 |
| NC_000012.10:g.20965389C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381541.7:c.359+62617C>G | ENSP00000370952.3:n.359+62617C>G | |
| ENST00000540229.1:c.1865+19721C>G | ENSP00000441269.1:n.1865+19721C>G | |
| NM_001371097.1:c.1865+19721C>G | NP_001358026.1:n.1865+19721C>G |