gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10719193 (AMR)
Genomes Max Group AF
0.10719193 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40208138C>T , CM000674.2:g.40208138C>T | GRCh38 |
| NC_000012.11:g.40601940C>T , CM000674.1:g.40601940C>T | GRCh37 |
| NC_000012.10:g.38888207C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416796.5:c.-63+11365C>T | ENSP00000398726.1:n.-63+11365C>T | |
| XR_944865.1:n.290+141C>T | ||
| XR_944865.3:n.521+141C>T |