gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10482691 (AFR)
Genomes Max Group AF
0.10482691 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72138457C>G , CM000673.2:g.72138457C>G | GRCh38 |
| NC_000011.9:g.71849503C>G , CM000673.1:g.71849503C>G | GRCh37 |
| NC_000011.8:g.71527151C>G | NCBI36 |
| NG_032935.1:g.7733C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611028.3:c.169-504C>G MANE Select | ENSP00000481114.1:n.169-504C>G | |
| ENST00000442948.3:c.163-504C>G | ENSP00000411161.3:n.163-504C>G | |
| ENST00000546166.1:c.163-504C>G | ENSP00000446279.1:n.163-504C>G | |
| ENST00000611028.2:c.169-504C>G | ENSP00000481114.1:n.169-504C>G | |
| ENST00000612844.4:c.169-376C>G | ENSP00000481027.1:n.169-376C>G | |
| ENST00000622388.4:c.169-504C>G | ENSP00000481833.1:n.169-504C>G | |
| NM_000804.2:c.169-504C>G | NP_000795.2:n.169-504C>G | |
| XM_011544873.1:c.169-504C>G | XP_011543175.1:n.169-504C>G | |
| XM_011544874.1:c.169-504C>G | XP_011543176.1:n.169-504C>G | |
| XM_011544875.1:c.-233-376C>G | XP_011543177.1:n.-233-376C>G | |
| NM_000804.3:c.169-504C>G | NP_000795.2:n.169-504C>G | |
| NM_001318045.1:c.-233-376C>G | NP_001304974.1:n.-233-376C>G | |
| NM_000804.4:c.169-504C>G MANE Select | NP_000795.2:n.169-504C>G | |
| NM_001318045.2:c.-233-376C>G | NP_001304974.1:n.-233-376C>G |