gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39360757 (AFR)
Genomes Max Group AF
0.39360757 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26415053A>G , CM000663.2:g.26415053A>G | GRCh38 |
| NC_000001.10:g.26741544A>G , CM000663.1:g.26741544A>G | GRCh37 |
| NC_000001.9:g.26614131A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326279.11:c.228+3471A>G MANE Select | ENSP00000363314.3:n.228+3471A>G | |
| ENST00000254231.4:c.228+3471A>G | ENSP00000254231.4:n.228+3471A>G | |
| ENST00000326279.10:c.228+3471A>G | ENSP00000363314.3:n.228+3471A>G | |
| NM_024674.4:c.228+3471A>G | NP_078950.1:n.228+3471A>G | |
| NM_024674.5:c.228+3471A>G | NP_078950.1:n.228+3471A>G | |
| XM_011542148.1:c.228+3471A>G | XP_011540450.1:n.228+3471A>G | |
| XM_011542148.2:c.228+3471A>G | XP_011540450.1:n.228+3471A>G | |
| NM_024674.6:c.228+3471A>G MANE Select | NP_078950.1:n.228+3471A>G |