gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63282001 (SAS)
Genomes Max Group AF
0.61479332 (NFE)
Exomes Max Group AF
0.63464434 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28388529T>C , CM000675.2:g.28388529T>C | GRCh38 |
| NC_000013.10:g.28962666T>C , CM000675.1:g.28962666T>C | GRCh37 |
| NC_000013.9:g.27860666T>C | NCBI36 |
| NG_012003.1:g.111600A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615840.5:c.*1172A>G | ENSP00000484039.1:n.*1172A>G | |
| ENST00000282397.9:c.1969+1267A>G MANE Select | ENSP00000282397.4:n.1969+1267A>G | |
| ENST00000639477.1:c.*1075A>G | ENSP00000491097.1:n.*1075A>G | |
| ENST00000282397.8:c.1969+1267A>G | ENSP00000282397.4:n.1969+1267A>G | |
| ENST00000541932.5:c.1969+1267A>G | ENSP00000437631.1:n.1969+1267A>G | |
| ENST00000615840.4:c.*1172A>G | ENSP00000484039.1:n.*1172A>G | |
| NM_001159920.1:c.*1172A>G | NP_001153392.1:n.*1172A>G | |
| NM_001160030.1:c.1969+1267A>G | NP_001153502.1:n.1969+1267A>G | |
| NM_002019.4:c.1969+1267A>G MANE Select | NP_002010.2:n.1969+1267A>G | |
| XM_011535014.1:c.1969+1267A>G | XP_011533316.1:n.1969+1267A>G | |
| XM_017020485.1:c.1969+1267A>G | XP_016875974.1:n.1969+1267A>G | |
| NM_001159920.2:c.*1172A>G | NP_001153392.1:n.*1172A>G | |
| NM_001160030.2:c.1969+1267A>G | NP_001153502.1:n.1969+1267A>G |