gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07446927 (AMR)
Genomes Max Group AF
0.07446927 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61531817A>G , CM000682.2:g.61531817A>G | GRCh38 |
| NC_000020.10:g.60106873A>G , CM000682.1:g.60106873A>G | GRCh37 |
| NC_000020.9:g.59540268A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.170-211746A>G MANE Select | ENSP00000484928.1:n.170-211746A>G | |
| ENST00000614565.4:c.170-211746A>G | ENSP00000484928.1:n.170-211746A>G | |
| NM_001252338.2:c.58+32325A>G | NP_001239267.1:n.58+32325A>G | |
| NM_001794.4:c.170-211746A>G | NP_001785.2:n.170-211746A>G | |
| NM_001794.5:c.170-211746A>G MANE Select | NP_001785.2:n.170-211746A>G |