gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87015862 (NFE)
Genomes Max Group AF
0.87015862 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127852633G>A , CM000671.2:g.127852633G>A | GRCh38 |
| NC_000009.11:g.130614912G>A , CM000671.1:g.130614912G>A | GRCh37 |
| NC_000009.10:g.129654733G>A | NCBI36 |
| NG_009551.1:g.7136C>T , LRG_589:g.7136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.67+1656C>T MANE Select | ENSP00000362299.4:n.67+1656C>T | |
| ENST00000344849.4:c.67+1656C>T | ENSP00000341917.3:n.67+1656C>T | |
| ENST00000373203.8:c.67+1656C>T | ENSP00000362299.4:n.67+1656C>T | |
| NM_000118.3:c.67+1656C>T , LRG_589t1:c.67+1656C>T | NP_000109.1:n.67+1656C>T | |
| NM_001114753.2:c.67+1656C>T , LRG_589t2:c.67+1656C>T | NP_001108225.1:n.67+1656C>T | |
| NM_001114753.3:c.67+1656C>T MANE Select | NP_001108225.1:n.67+1656C>T |