gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52754269 (EAS)
Genomes Max Group AF
0.52754269 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46659814G>A , CM000682.2:g.46659814G>A | GRCh38 |
| NC_000020.10:g.45288453G>A , CM000682.1:g.45288453G>A | GRCh37 |
| NC_000020.9:g.44721860G>A | NCBI36 |
| NG_047182.1:g.29672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290317.9:c.-31+10229C>T | ENSP00000290317.5:n.-31+10229C>T | |
| ENST00000372121.5:c.-31+24582C>T | ENSP00000361193.2:n.-31+24582C>T | |
| ENST00000417157.2:c.-31+10229C>T | ENSP00000397955.2:n.-31+10229C>T | |
| ENST00000468915.5:c.-31+10229C>T | ENSP00000417784.1:n.-31+10229C>T | |
| ENST00000472148.5:c.-31+10229C>T | ENSP00000420177.1:n.-31+10229C>T | |
| NM_001011554.2:c.-31+10229C>T | NP_001011554.1:n.-31+10229C>T | |
| NM_001193340.1:c.-31+10229C>T | NP_001180269.1:n.-31+10229C>T | |
| NM_001011554.3:c.-31+10229C>T | NP_001011554.1:n.-31+10229C>T | |
| NM_001193340.2:c.-31+10229C>T | NP_001180269.1:n.-31+10229C>T |