gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94497279 (EAS)
Genomes Max Group AF
0.94497279 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.77335605C>T , CM000674.2:g.77335605C>T | GRCh38 |
| NC_000012.11:g.77729385C>T , CM000674.1:g.77729385C>T | GRCh37 |
| NC_000012.10:g.76253516C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550042.2:c.-337+10391C>T | ENSP00000489639.1:n.-337+10391C>T | |
| XR_945127.1:n.217-5123G>A |