gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20531065 (AFR)
Genomes Max Group AF
0.20531065 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4495346C>T , CM000673.2:g.4495346C>T | GRCh38 |
| NC_000011.9:g.4516576C>T , CM000673.1:g.4516576C>T | GRCh37 |
| NC_000011.8:g.4473152C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685350.1:n.541-24317C>T | ||
| ENST00000690302.1:n.380-24317C>T | ||
| ENST00000691418.1:n.366-23401C>T | ||
| ENST00000693118.1:n.366-8762C>T |