gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50653185 (AFR)
Genomes Max Group AF
0.50653185 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.129475652A>C , CM000674.2:g.129475652A>C | GRCh38 |
| NC_000012.11:g.129960197A>C , CM000674.1:g.129960197A>C | GRCh37 |
| NC_000012.10:g.128526150A>C | NCBI36 |
| NG_052808.1:g.433016T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422113.7:c.1115+55407T>G MANE Select | ENSP00000408581.2:n.1115+55407T>G | |
| ENST00000422113.6:c.1115+55407T>G | ENSP00000408581.2:n.1115+55407T>G | |
| ENST00000619366.1:c.1055+55407T>G | ENSP00000478824.1:n.1055+55407T>G | |
| NM_133448.2:c.1115+55407T>G | NP_597705.2:n.1115+55407T>G | |
| XM_011537894.1:c.969-137835T>G | XP_011536196.1:n.969-137835T>G | |
| NM_133448.3:c.1115+55407T>G MANE Select | NP_597705.2:n.1115+55407T>G |