gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45134105 (NFE)
Genomes Max Group AF
0.45134105 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5615686A>G , CM000679.2:g.5615686A>G | GRCh38 |
| NC_000017.10:g.5519006A>G , CM000679.1:g.5519006A>G | GRCh37 |
| NC_000017.9:g.5459730A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000572143.2:c.-544+3645T>C | ENSP00000514476.1:n.-544+3645T>C | |
| ENST00000576905.6:c.-355+3645T>C | ENSP00000458303.2:n.-355+3645T>C | |
| ENST00000699639.1:n.84+3645T>C | ||
| ENST00000572143.1:n.94+3645T>C | ||
| ENST00000576905.5:c.-355+3645T>C | ENSP00000458303.1:n.-355+3645T>C |