gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49946811 (EAS)
Genomes Max Group AF
0.49946811 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.17000966G>C , CM000670.2:g.17000966G>C | GRCh38 |
| NC_000008.10:g.16858475G>C , CM000670.1:g.16858475G>C | GRCh37 |
| NC_000008.9:g.16902846G>C | NCBI36 |
| NG_015978.1:g.6200C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.286+781C>G MANE Select | ENSP00000180166.5:n.286+781C>G | |
| ENST00000180166.5:c.286+781C>G | ENSP00000180166.5:n.286+781C>G | |
| ENST00000519941.1:c.94+781C>G | ||
| NM_019851.2:c.286+781C>G | NP_062825.1:n.286+781C>G | |
| NM_019851.3:c.286+781C>G MANE Select | NP_062825.1:n.286+781C>G |