ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021849 (NFE)
Genomes Max Group AF
0.00013512 (NFE)
Exomes Max Group AF
0.00021921 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197084342C>T , CM000663.2:g.197084342C>T | GRCh38 |
| NC_000001.10:g.197053472C>T , CM000663.1:g.197053472C>T | GRCh37 |
| NC_000001.9:g.195320095C>T | NCBI36 |
| NG_015867.1:g.67353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3703G>A | ||
| ENST00000367409.9:c.10416G>A MANE Select | ENSP00000356379.4:p.Thr3472= | |
| ENST00000680265.1:c.10638G>A | ENSP00000505384.1:p.Thr3546= | |
| ENST00000680710.1:c.10392G>A | ENSP00000506676.1:p.Thr3464= | |
| ENST00000294732.11:c.5661G>A | ENSP00000294732.7:p.Thr1887= | |
| ENST00000367408.5:c.3411G>A | ENSP00000356378.1:p.Thr1137= | |
| ENST00000367409.8:c.10416G>A | ENSP00000356379.4:p.Thr3472= | |
| NM_001206846.1:c.5661G>A | NP_001193775.1:p.Thr1887= | |
| NM_018136.4:c.10416G>A | NP_060606.3:p.Thr3472= | |
| NM_018136.5:c.10416G>A MANE Select | NP_060606.3:p.Thr3472= | |
| NM_001206846.2:c.5661G>A | NP_001193775.1:p.Thr1887= |