gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09059768 (NFE)
Genomes Max Group AF
0.09059768 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68600650C>T , CM000677.2:g.68600650C>T | GRCh38 |
| NC_000015.9:g.68892989C>T , CM000677.1:g.68892989C>T | GRCh37 |
| NC_000015.8:g.66680043C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261861.10:c.15+21373C>T MANE Select | ENSP00000261861.6:n.15+21373C>T | |
| ENST00000261861.9:c.-1+21373C>T | ENSP00000261861.5:n.-1+21373C>T | |
| ENST00000566799.5:c.15+21373C>T | ENSP00000454783.1:n.15+21373C>T | |
| NM_006091.4:c.15+21373C>T | NP_006082.3:n.15+21373C>T | |
| XM_005254124.1:c.3+41037C>T | XP_005254181.1:n.3+41037C>T | |
| XM_011521159.1:c.-1+20000C>T | XP_011519461.1:n.-1+20000C>T | |
| NM_001324014.1:c.1-44510C>T | NP_001310943.1:n.1-44510C>T | |
| NM_006091.5:c.15+21373C>T MANE Select | NP_006082.3:n.15+21373C>T |