gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13885757 (AMR)
Genomes Max Group AF
0.13885757 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.36570887T>C , CM000669.2:g.36570887T>C | GRCh38 |
| NC_000007.13:g.36610493T>C , CM000669.1:g.36610493T>C | GRCh37 |
| NC_000007.12:g.36577018T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617537.5:c.1021+5687A>G MANE Select | ENSP00000483783.1:n.1021+5687A>G | |
| ENST00000480201.1:n.298+5687A>G | ||
| ENST00000487014.5:n.243+5687A>G | ||
| ENST00000495942.5:n.298+5687A>G | ||
| ENST00000612871.4:c.925+5687A>G | ENSP00000484305.1:n.925+5687A>G | |
| ENST00000617267.4:c.1021+5687A>G | ENSP00000479664.1:n.1021+5687A>G | |
| ENST00000617537.4:c.1021+5687A>G | ENSP00000483783.1:n.1021+5687A>G | |
| NM_001177506.1:c.1021+5687A>G | NP_001170977.1:n.1021+5687A>G | |
| NM_001177507.1:c.925+5687A>G | NP_001170978.1:n.925+5687A>G | |
| NM_001637.3:c.1021+5687A>G | NP_001628.1:n.1021+5687A>G | |
| XM_011515333.1:c.1021+5687A>G | XP_011513635.1:n.1021+5687A>G | |
| XM_011515334.1:c.925+5687A>G | XP_011513636.1:n.925+5687A>G | |
| XM_011515335.1:c.898+5687A>G | XP_011513637.1:n.898+5687A>G | |
| XM_011515336.1:c.1021+5687A>G | XP_011513638.1:n.1021+5687A>G | |
| XM_011515337.1:c.1021+5687A>G | XP_011513639.1:n.1021+5687A>G | |
| XM_011515338.1:c.1021+5687A>G | XP_011513640.1:n.1021+5687A>G | |
| XM_011515339.1:c.1021+5687A>G | XP_011513641.1:n.1021+5687A>G | |
| XM_011515340.1:c.1021+5687A>G | XP_011513642.1:n.1021+5687A>G | |
| XM_011515341.1:c.1021+5687A>G | XP_011513643.1:n.1021+5687A>G | |
| XM_011515342.1:c.190+5687A>G | XP_011513644.1:n.190+5687A>G | |
| XM_011515333.2:c.1021+5687A>G | XP_011513635.1:n.1021+5687A>G | |
| XM_011515334.2:c.925+5687A>G | XP_011513636.1:n.925+5687A>G | |
| XM_011515335.2:c.898+5687A>G | XP_011513637.1:n.898+5687A>G | |
| XM_011515336.2:c.1021+5687A>G | XP_011513638.1:n.1021+5687A>G | |
| XM_011515338.2:c.1021+5687A>G | XP_011513640.1:n.1021+5687A>G | |
| XM_011515339.2:c.1021+5687A>G | XP_011513641.1:n.1021+5687A>G | |
| XM_011515340.2:c.1021+5687A>G | XP_011513642.1:n.1021+5687A>G | |
| XM_011515341.2:c.1021+5687A>G | XP_011513643.1:n.1021+5687A>G | |
| XM_011515342.2:c.190+5687A>G | XP_011513644.1:n.190+5687A>G | |
| XM_017012102.2:c.1021+5687A>G | XP_016867591.1:n.1021+5687A>G | |
| XM_017012104.1:c.1021+5687A>G | XP_016867593.1:n.1021+5687A>G | |
| XM_017012105.1:c.328+5687A>G | XP_016867594.1:n.328+5687A>G | |
| XM_017012106.1:c.1021+5687A>G | XP_016867595.1:n.1021+5687A>G | |
| NM_001637.4:c.1021+5687A>G MANE Select | NP_001628.1:n.1021+5687A>G | |
| NM_001177506.2:c.1021+5687A>G | NP_001170977.1:n.1021+5687A>G | |
| NM_001177507.2:c.925+5687A>G | NP_001170978.1:n.925+5687A>G |