gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19023206 (MID)
Genomes Max Group AF
0.1188914 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.67365898T>C , CM000665.2:g.67365898T>C | GRCh38 |
| NC_000003.11:g.67416322T>C , CM000665.1:g.67416322T>C | GRCh37 |
| NC_000003.10:g.67499012T>C | NCBI36 |
| NG_052945.1:g.293717A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493112.5:c.1184-5130A>G | ENSP00000419325.1:n.1184-5130A>G | |
| NM_001177599.1:c.1184-5130A>G | NP_001171070.1:n.1184-5130A>G | |
| NM_001177599.2:c.1184-5130A>G | NP_001171070.1:n.1184-5130A>G |