gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36790733 (AMR)
Genomes Max Group AF
0.36790733 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32051969G>C , CM000668.2:g.32051969G>C | GRCh38 |
| NC_000006.11:g.32019746G>C , CM000668.1:g.32019746G>C | GRCh37 |
| NC_000006.10:g.32127724G>C | NCBI36 |
| NG_008337.2:g.62406C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644971.2:c.9115+701C>G MANE Select | ENSP00000496448.1:n.9115+701C>G | |
| ENST00000647633.1:c.9856+701C>G | ENSP00000497649.1:n.9856+701C>G | |
| ENST00000375244.7:c.9115+701C>G | ENSP00000364393.3:n.9115+701C>G | |
| ENST00000611016.2:c.2269+701C>G | ENSP00000483409.1:n.2269+701C>G | |
| NM_019105.6:c.9109+701C>G | NP_061978.6:n.9109+701C>G | |
| NM_001365276.1:c.9115+701C>G | NP_001352205.1:n.9115+701C>G | |
| NM_019105.7:c.9109+701C>G | NP_061978.6:n.9109+701C>G | |
| NM_001365276.2:c.9115+701C>G MANE Select | NP_001352205.1:n.9115+701C>G | |
| NM_019105.8:c.9109+701C>G | NP_061978.6:n.9109+701C>G |