gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79021941 (NFE)
Genomes Max Group AF
0.79021941 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80943679T>C , CM000674.2:g.80943679T>C | GRCh38 |
| NC_000012.11:g.81337458T>C , CM000674.1:g.81337458T>C | GRCh37 |
| NC_000012.10:g.79861589T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650935.1:n.61-5586T>C | ||
| ENST00000549175.1:c.-151+5761T>C | ENSP00000447748.1:n.-151+5761T>C |