gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25620476 (NFE)
Genomes Max Group AF
0.26373243 (NFE)
Exomes Max Group AF
0.24484378 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206768184T>C , CM000663.2:g.206768184T>C | GRCh38 |
| NC_000001.10:g.206941529T>C , CM000663.1:g.206941529T>C | GRCh37 |
| NC_000001.9:g.205008152T>C | NCBI36 |
| NG_012088.1:g.9311A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.1994A>G | ||
| ENST00000471071.2:c.*452A>G | ENSP00000493073.2:n.*452A>G | |
| ENST00000640756.2:n.799A>G | ||
| ENST00000659065.2:c.*452A>G | ENSP00000499588.1:n.*452A>G | |
| ENST00000659642.2:c.*452A>G | ENSP00000499509.1:n.*452A>G | |
| ENST00000664374.2:c.*452A>G | ENSP00000499664.1:n.*452A>G | |
| ENST00000640756.1:n.788A>G | ||
| ENST00000659065.1:c.*452A>G | ENSP00000499588.1:n.*452A>G | |
| ENST00000659642.1:c.*452A>G | ENSP00000499509.1:n.*452A>G | |
| ENST00000423557.1:c.*452A>G MANE Select | ENSP00000412237.1:n.*452A>G | |
| NM_000572.2:c.*452A>G | NP_000563.1:n.*452A>G | |
| XM_011509506.1:c.*452A>G | XP_011507808.1:n.*452A>G | |
| NM_000572.3:c.*452A>G MANE Select | NP_000563.1:n.*452A>G | |
| NM_001382624.1:c.*452A>G | NP_001369553.1:n.*452A>G | |
| NR_168466.1:n.1286A>G | ||
| NR_168467.1:n.816A>G |