gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12076726 (EAS)
Genomes Max Group AF
0.12076726 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75565017C>T , CM000664.2:g.75565017C>T | GRCh38 |
| NC_000002.11:g.75792143C>T , CM000664.1:g.75792143C>T | GRCh37 |
| NC_000002.10:g.75645651C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233712.5:c.-192+4459G>A | ENSP00000233712.1:n.-192+4459G>A | |
| ENST00000486696.1:n.223+4459G>A | ||
| NM_032181.2:c.-192+4459G>A | NP_115557.1:n.-192+4459G>A | |
| NM_032181.3:c.-192+4459G>A | NP_115557.1:n.-192+4459G>A |