gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79184255 (NFE)
Genomes Max Group AF
0.79184255 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95713457A>G , CM000672.2:g.95713457A>G | GRCh38 |
| NC_000010.10:g.97473214A>G , CM000672.1:g.97473214A>G | GRCh37 |
| NC_000010.9:g.97463204A>G | NCBI36 |
| NG_042803.1:g.6679A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453258.6:c.37+1464A>G | ENSP00000390955.2:n.37+1464A>G | |
| NM_001098175.1:c.37+1464A>G | NP_001091645.1:n.37+1464A>G | |
| XM_011540371.1:c.37+1464A>G | XP_011538673.1:n.37+1464A>G | |
| XM_011540371.2:c.37+1464A>G | XP_011538673.1:n.37+1464A>G | |
| NM_001098175.2:c.37+1464A>G | NP_001091645.1:n.37+1464A>G |