gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16193806 (AMR)
Genomes Max Group AF
0.16193806 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77275676A>G , CM000680.2:g.77275676A>G | GRCh38 |
| NC_000018.9:g.74987632A>G , CM000680.1:g.74987632A>G | GRCh37 |
| NC_000018.8:g.73116620A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299727.5:c.*6774A>G MANE Select | ENSP00000299727.3:n.*6774A>G | |
| ENST00000299727.4:c.7824A>G | ENSP00000299727.3:n.7824A>G | |
| NM_001480.4:c.*6774A>G MANE Select | NP_001471.2:n.*6774A>G |