gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42183347 (NFE)
Genomes Max Group AF
0.42183347 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.129152803C>T , CM000674.2:g.129152803C>T | GRCh38 |
| NC_000012.11:g.129637348C>T , CM000674.1:g.129637348C>T | GRCh37 |
| NC_000012.10:g.128203301C>T | NCBI36 |
| NG_052808.1:g.755865G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422113.7:c.1443+56717G>A MANE Select | ENSP00000408581.2:n.1443+56717G>A | |
| ENST00000422113.6:c.1443+56717G>A | ENSP00000408581.2:n.1443+56717G>A | |
| ENST00000619366.1:c.1383+56717G>A | ENSP00000478824.1:n.1383+56717G>A | |
| NM_133448.2:c.1443+56717G>A | NP_597705.2:n.1443+56717G>A | |
| XM_011537894.1:c.1296+56717G>A | XP_011536196.1:n.1296+56717G>A | |
| NM_133448.3:c.1443+56717G>A MANE Select | NP_597705.2:n.1443+56717G>A |