gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59372032 (AMR)
Genomes Max Group AF
0.53881235 (AMR)
Exomes Max Group AF
0.62058267 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65979182A>G , CM000673.2:g.65979182A>G | GRCh38 |
| NC_000011.9:g.65746653A>G , CM000673.1:g.65746653A>G | GRCh37 |
| NC_000011.8:g.65503229A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312397.10:c.*152A>G MANE Select | ENSP00000310448.5:n.*152A>G | |
| ENST00000312397.9:c.*152A>G | ENSP00000310448.5:n.*152A>G | |
| NM_005146.4:c.*152A>G | NP_005137.1:n.*152A>G | |
| XR_950099.3:n.2625A>G | ||
| NM_005146.5:c.*152A>G MANE Select | NP_005137.1:n.*152A>G |