gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48928122 (SAS)
Genomes Max Group AF
0.48928122 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9602982G>A , CM000674.2:g.9602982G>A | GRCh38 |
| NC_000012.11:g.9755578G>A , CM000674.1:g.9755578G>A | GRCh37 |
| NC_000012.10:g.9646845G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229402.4:c.86-1383C>T MANE Select | ENSP00000229402.3:n.86-1383C>T | |
| ENST00000229402.3:c.86-1383C>T | ENSP00000229402.3:n.86-1383C>T | |
| NM_002258.2:c.86-1383C>T | NP_002249.1:n.86-1383C>T | |
| NM_002258.3:c.86-1383C>T MANE Select | NP_002249.1:n.86-1383C>T |