gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67353379 (AFR)
Genomes Max Group AF
0.67353379 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45427029A>G , CM000683.2:g.45427029A>G | GRCh38 |
| NC_000021.8:g.46846944A>G , CM000683.1:g.46846944A>G | GRCh37 |
| NC_000021.7:g.45671372A>G | NCBI36 |
| NG_011903.1:g.26848A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651438.1:c.106+21556A>G MANE Select | ENSP00000498485.1:n.106+21556A>G | |
| ENST00000400337.6:c.106+21556A>G | ENSP00000383191.2:n.106+21556A>G | |
| NM_130445.3:c.106+21556A>G | NP_569712.2:n.106+21556A>G | |
| NM_130445.4:c.106+21556A>G | NP_569712.2:n.106+21556A>G | |
| NM_001379500.1:c.106+21556A>G MANE Select | NP_001366429.1:n.106+21556A>G |