gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51214624 (NFE)
Genomes Max Group AF
0.51214624 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153796924C>T , CM000663.2:g.153796924C>T | GRCh38 |
| NC_000001.10:g.153769400C>T , CM000663.1:g.153769400C>T | GRCh37 |
| NC_000001.9:g.152036024C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637918.1:c.136-6848G>A | ||
| ENST00000427283.1:n.819+359C>T | ||
| XM_017003084.2:c.53+361C>T | XP_016858573.1:n.53+361C>T | |
| XM_017003085.2:c.53+361C>T | XP_016858574.1:n.53+361C>T |