gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013911 (AMR)
Genomes Max Group AF
0.00012867 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5046497A>G , CM000674.2:g.5046497A>G | GRCh38 |
| NC_000012.11:g.5155663A>G , CM000674.1:g.5155663A>G | GRCh37 |
| NC_000012.10:g.5025924A>G | NCBI36 |
| NG_012198.1:g.7579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.*508A>G MANE Select | ENSP00000252321.3:n.*508A>G | |
| ENST00000252321.4:c.*508A>G | ENSP00000252321.3:n.*508A>G | |
| NM_002234.3:c.*508A>G | NP_002225.2:n.*508A>G | |
| NM_002234.4:c.*508A>G MANE Select | NP_002225.2:n.*508A>G |