gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4159458 (AFR)
Genomes Max Group AF
0.4159458 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110378231A>G , CM000675.2:g.110378231A>G | GRCh38 |
| NC_000013.10:g.111030578A>G , CM000675.1:g.111030578A>G | GRCh37 |
| NC_000013.9:g.109828579A>G | NCBI36 |
| NG_032137.1:g.75948A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.180+20679A>G MANE Select | ENSP00000353654.5:n.180+20679A>G | |
| ENST00000400163.7:c.180+20679A>G | ENSP00000383027.3:n.180+20679A>G | |
| ENST00000650540.1:c.180+20679A>G | ENSP00000497878.1:n.180+20679A>G | |
| ENST00000360467.5:c.180+20679A>G | ENSP00000353654.5:n.180+20679A>G | |
| ENST00000400163.6:c.180+20679A>G | ENSP00000383027.2:n.180+20679A>G | |
| NM_001846.2:c.180+20679A>G | NP_001837.2:n.180+20679A>G | |
| NM_001846.3:c.180+20679A>G | NP_001837.2:n.180+20679A>G | |
| NM_001846.4:c.180+20679A>G MANE Select | NP_001837.2:n.180+20679A>G |