gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6937902 (NFE)
Genomes Max Group AF
0.6940332 (NFE)
Exomes Max Group AF
0.69212449 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113410351G>C , CM000673.2:g.113410351G>C | GRCh38 |
| NC_000011.9:g.113281073G>C , CM000673.1:g.113281073G>C | GRCh37 |
| NC_000011.8:g.112786283G>C | NCBI36 |
| NG_008841.1:g.69929C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.*376C>G MANE Select | ENSP00000354859.3:n.*376C>G | |
| ENST00000346454.7:c.*376C>G | ENSP00000278597.5:n.*376C>G | |
| ENST00000362072.7:c.*376C>G | ENSP00000354859.3:n.*376C>G | |
| ENST00000542968.5:c.*376C>G | ENSP00000442172.1:n.*376C>G | |
| ENST00000544518.5:c.*376C>G | ENSP00000441068.1:n.*376C>G | |
| NM_000795.3:c.*376C>G | NP_000786.1:n.*376C>G | |
| NM_016574.3:c.*376C>G | NP_057658.2:n.*376C>G | |
| XM_017017296.2:c.*376C>G | XP_016872785.1:n.*376C>G | |
| NM_000795.4:c.*376C>G MANE Select | NP_000786.1:n.*376C>G | |
| NM_016574.4:c.*376C>G | NP_057658.2:n.*376C>G |