ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000587 (AMR)
Exomes Max Group AF
0.00000803 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27029104G>T , CM000671.2:g.27029104G>T | GRCh38 |
| NC_000009.11:g.27029102G>T , CM000671.1:g.27029102G>T | GRCh37 |
| NC_000009.10:g.27019102G>T | NCBI36 |
| NG_053083.1:g.87115G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380062.10:c.1054G>T MANE Select | ENSP00000369402.5:p.Gly352Cys | |
| ENST00000648373.1:c.*506G>T | ENSP00000497616.1:n.*506G>T | |
| ENST00000380062.9:c.1054G>T | ENSP00000369402.5:p.Gly352Cys | |
| ENST00000429045.6:c.1054G>T | ENSP00000393907.2:p.Asp352Tyr | |
| ENST00000433700.5:c.1054G>T | ENSP00000389224.1:p.Gly352Cys | |
| ENST00000443698.5:c.1054G>T | ENSP00000404122.1:p.Gly352Cys | |
| ENST00000482986.1:n.297G>T | ||
| NM_001099222.1:c.1054G>T | NP_001092692.1:p.Gly352Cys | |
| NM_001099223.1:c.1054G>T | NP_001092693.1:p.Gly352Cys | |
| NM_001099224.1:c.1054G>T | NP_001092694.1:p.Asp352Tyr | |
| NM_025103.2:c.1054G>T | NP_079379.2:p.Gly352Cys | |
| XM_011518035.1:c.1054G>T | XP_011516337.1:p.Gly352Cys | |
| XM_011518036.1:c.391G>T | XP_011516338.1:p.Gly131Cys | |
| NM_001099222.2:c.1054G>T | NP_001092692.1:p.Gly352Cys | |
| NM_001099223.2:c.1054G>T | NP_001092693.1:p.Gly352Cys | |
| NM_001099224.2:c.1054G>T | NP_001092694.1:p.Asp352Tyr | |
| NM_001349928.1:c.1054G>T | NP_001336857.1:p.Gly352Cys | |
| NM_025103.3:c.1054G>T | NP_079379.2:p.Gly352Cys | |
| XM_011518036.2:c.391G>T | XP_011516338.1:p.Gly131Cys | |
| XM_017015163.1:c.391G>T | XP_016870652.1:p.Gly131Cys | |
| XM_017015164.1:c.391G>T | XP_016870653.1:p.Gly131Cys | |
| NM_001349928.2:c.1054G>T | NP_001336857.1:p.Gly352Cys | |
| NM_025103.4:c.1054G>T MANE Select | NP_079379.2:p.Gly352Cys | |
| NM_001099222.3:c.1054G>T | NP_001092692.1:p.Gly352Cys | |
| NM_001099223.3:c.1054G>T | NP_001092693.1:p.Gly352Cys | |
| NM_001099224.3:c.1054G>T | NP_001092694.1:p.Asp352Tyr |