gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28885423 (NFE)
Genomes Max Group AF
0.28885423 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2723468C>T , CM000669.2:g.2723468C>T | GRCh38 |
| NC_000007.13:g.2763102C>T , CM000669.1:g.2763102C>T | GRCh37 |
| NC_000007.12:g.2729628C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489665.1:n.550+13652C>T | ||
| XM_011515151.1:c.778+13652C>T | XP_011513453.1:n.778+13652C>T | |
| NM_001321766.1:c.948+13652C>T | NP_001308695.1:n.948+13652C>T | |
| XM_011515151.3:c.778+13652C>T | XP_011513453.1:n.778+13652C>T | |
| XM_017011774.2:c.778+13652C>T | XP_016867263.1:n.778+13652C>T | |
| NM_001321766.2:c.948+13652C>T | NP_001308695.1:n.948+13652C>T | |
| NM_001384740.1:c.948+13652C>T | NP_001371669.1:n.948+13652C>T | |
| NM_001384741.1:c.779-7553C>T | NP_001371670.1:n.779-7553C>T | |
| NM_001384742.1:c.779-1013C>T | NP_001371671.1:n.779-1013C>T |