gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73042365 (EAS)
Genomes Max Group AF
0.73042365 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88264518C>T , CM000678.2:g.88264518C>T | GRCh38 |
| NC_000016.9:g.88298124C>T , CM000678.1:g.88298124C>T | GRCh37 |
| NC_000016.8:g.86855625C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011523386.1:c.-293-11956C>T | XP_011521688.1:n.-293-11956C>T | |
| XM_017023969.1:c.-468G>A | XP_016879458.1:n.-468G>A | |
| NR_171662.1:n.274+343G>A | ||
| NR_171663.1:n.370+247G>A |