gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75704027 (AMR)
Genomes Max Group AF
0.75704027 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61278882A>G , CM000682.2:g.61278882A>G | GRCh38 |
| NC_000020.10:g.59853938A>G , CM000682.1:g.59853938A>G | GRCh37 |
| NC_000020.9:g.59287333A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.169+23945A>G MANE Select | ENSP00000484928.1:n.169+23945A>G | |
| ENST00000614565.4:c.169+23945A>G | ENSP00000484928.1:n.169+23945A>G | |
| NM_001794.4:c.169+23945A>G | NP_001785.2:n.169+23945A>G | |
| NM_001794.5:c.169+23945A>G MANE Select | NP_001785.2:n.169+23945A>G |