gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50921421 (NFE)
Genomes Max Group AF
0.49752431 (NFE)
Exomes Max Group AF
0.52178122 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.411064A>G , CM000668.2:g.411064A>G | GRCh38 |
| NC_000006.11:g.411064A>G , CM000668.1:g.411064A>G | GRCh37 |
| NC_000006.10:g.356064A>G | NCBI36 |
| NG_027728.1:g.24326A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380956.9:c.*3466A>G MANE Select | ENSP00000370343.4:n.*3466A>G | |
| ENST00000380956.8:c.*3466A>G | ENSP00000370343.4:n.*3466A>G | |
| NM_001195286.1:c.*3466A>G | NP_001182215.1:n.*3466A>G | |
| NM_002460.3:c.*3466A>G | NP_002451.2:n.*3466A>G | |
| NR_046000.2:n.5079A>G | ||
| XM_006715090.1:c.*3466A>G | XP_006715153.1:n.*3466A>G | |
| XM_006715090.2:c.*3466A>G | XP_006715153.1:n.*3466A>G | |
| NM_002460.4:c.*3466A>G MANE Select | NP_002451.2:n.*3466A>G | |
| NM_001195286.2:c.*3466A>G | NP_001182215.1:n.*3466A>G | |
| NR_046000.3:n.5066A>G |