gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2540384 (NFE)
Genomes Max Group AF
0.25412273 (NFE)
Exomes Max Group AF
0.05680378 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.112375255C>T , CM000672.2:g.112375255C>T | GRCh38 |
| NC_000010.10:g.114135013C>T , CM000672.1:g.114135013C>T | GRCh37 |
| NC_000010.9:g.114125003C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354655.9:c.-30+986C>T MANE Select | ENSP00000346680.4:n.-30+986C>T | |
| ENST00000393081.6:c.-317C>T | ENSP00000376796.1:n.-317C>T | |
| ENST00000354655.8:c.-30+986C>T | ENSP00000346680.4:n.-30+986C>T | |
| ENST00000479936.1:n.21C>T | ||
| NM_203379.1:c.-30+986C>T | NP_976313.1:n.-30+986C>T | |
| NM_203379.2:c.-30+986C>T MANE Select | NP_976313.1:n.-30+986C>T |