gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13545664 (EAS)
Genomes Max Group AF
0.1363597 (EAS)
Exomes Max Group AF
0.01460131 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.203788C>T , CM000673.2:g.203788C>T | GRCh38 |
| NC_000011.9:g.203788C>T , CM000673.1:g.203788C>T | GRCh37 |
| NC_000011.8:g.193788C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382762.8:c.*1514G>A MANE Select | ENSP00000372210.3:n.*1514G>A | |
| ENST00000325147.13:c.*1682G>A | ENSP00000339093.7:n.*1682G>A | |
| ENST00000382762.7:c.*1514G>A | ENSP00000372210.3:n.*1514G>A | |
| ENST00000410108.5:c.168+1823G>A | ENSP00000386558.1:n.168+1823G>A | |
| NM_001098787.1:c.*1514G>A | NP_001092257.1:n.*1514G>A | |
| NM_016526.4:c.*1682G>A | NP_057610.2:n.*1682G>A | |
| NM_001098787.2:c.*1514G>A MANE Select | NP_001092257.1:n.*1514G>A | |
| NM_016526.5:c.*1682G>A | NP_057610.2:n.*1682G>A |