gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420486G>C , CM000666.2:g.99420486G>C | GRCh38 |
| NC_000004.11:g.100341643G>C , CM000666.1:g.100341643G>C | GRCh37 |
| NC_000004.10:g.100560666G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.825+47C>G MANE Select | ENSP00000414254.2:n.825+47C>G | |
| ENST00000209665.8:c.861+47C>G | ENSP00000209665.4:n.861+47C>G | |
| ENST00000437033.6:c.825+47C>G | ENSP00000414254.2:n.825+47C>G | |
| ENST00000476959.5:c.885+47C>G | ENSP00000420269.1:n.885+47C>G | |
| ENST00000482593.5:c.654+47C>G | ENSP00000420613.1:n.654+47C>G | |
| NM_000673.4:c.861+47C>G | NP_000664.2:n.861+47C>G | |
| NM_001166504.1:c.885+47C>G | NP_001159976.1:n.885+47C>G | |
| NM_000673.7:c.825+47C>G MANE Select | NP_000664.3:n.825+47C>G | |
| NM_001166504.2:c.885+47C>G | NP_001159976.1:n.885+47C>G |