Linked Data
ClinVar Variation Id:
90176
ClinVar RCV Id:
RCV000115481
RCV000235173
RCV000410226
RCV000524292
RCV000780414
RCV000764481
RCV003997128
dbSNP Id:
rs63750465
gnomAD v2:
3-37045932-C-A
gnomAD v3:
3-37004441-C-A
gnomAD v4:
3-37004441-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37004441C>A , CM000665.2:g.37004441C>A | GRCh38 |
| NC_000003.11:g.37045932C>A , CM000665.1:g.37045932C>A | GRCh37 |
| NC_000003.10:g.37020936C>A | NCBI36 |
| NG_007109.2:g.16092C>A , LRG_216:g.16092C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.347C>A | ENSP00000416476.2:p.Thr116Lys | |
| ENST00000429117.6:c.53C>A | ENSP00000407019.2:p.Thr18Lys | |
| ENST00000450420.6:c.347C>A | ENSP00000393006.2:p.Thr116Lys | |
| ENST00000456676.7:c.347C>A | ENSP00000416687.3:p.Thr116Lys | |
| ENST00000458009.6:c.347C>A | ENSP00000411066.2:p.Thr116Lys | |
| ENST00000492474.6:c.-377C>A | ENSP00000518393.1:n.-377C>A | |
| ENST00000616768.6:c.347C>A | ENSP00000480669.3:p.Thr116Lys | |
| ENST00000673673.2:c.347C>A | ENSP00000500979.2:p.Thr116Lys | |
| ENST00000231790.8:c.347C>A MANE Select | ENSP00000231790.3:p.Thr116Lys | |
| ENST00000413212.2:c.-377C>A | ENSP00000400844.2:n.-377C>A | |
| ENST00000432299.6:c.*427C>A | ENSP00000416783.1:n.*427C>A | |
| ENST00000441265.6:c.-377C>A | ENSP00000398392.2:n.-377C>A | |
| ENST00000442249.6:n.362C>A | ||
| ENST00000447829.6:c.18-2550C>A | ENSP00000399329.2:n.18-2550C>A | |
| ENST00000539477.6:c.-285C>A | ENSP00000443665.1:n.-285C>A | |
| ENST00000673673.1:c.300C>A | ||
| ENST00000673713.1:n.378C>A | ||
| ENST00000673715.1:c.347C>A | ENSP00000501301.1:p.Thr116Lys | |
| ENST00000673897.1:c.*139C>A | ENSP00000501109.1:n.*139C>A | |
| ENST00000673899.1:c.347C>A | ENSP00000501030.1:p.Thr116Lys | |
| ENST00000673947.1:c.*487C>A | ENSP00000501304.1:n.*487C>A | |
| ENST00000673972.1:c.*225C>A | ENSP00000501281.1:n.*225C>A | |
| ENST00000673990.1:n.332C>A | ||
| ENST00000674019.1:c.-377C>A | ENSP00000501081.1:n.-377C>A | |
| ENST00000674107.1:n.289C>A | ||
| ENST00000674111.1:c.347C>A | ENSP00000501162.1:p.Thr116Lys | |
| ENST00000231790.6:c.347C>A | ENSP00000231790.2:p.Thr116Lys | |
| ENST00000429117.5:c.53C>A | ENSP00000407019.1:p.Thr18Lys | |
| ENST00000432299.5:c.*427C>A | ENSP00000416783.1:n.*427C>A | |
| ENST00000435176.5:c.53C>A | ENSP00000402564.1:p.Thr18Lys | |
| ENST00000441265.5:c.-285C>A | ENSP00000398392.1:n.-285C>A | |
| ENST00000442249.5:c.*139C>A | ENSP00000387511.1:n.*139C>A | |
| ENST00000454028.5:c.*220C>A | ENSP00000392649.1:n.*220C>A | |
| ENST00000455445.6:c.-377C>A | ENSP00000398272.2:n.-377C>A | |
| ENST00000456676.6:c.322C>A | ||
| ENST00000457004.5:c.*126C>A | ENSP00000407773.1:n.*126C>A | |
| ENST00000458205.6:c.-377C>A | ENSP00000402667.2:n.-377C>A | |
| ENST00000466900.5:n.274C>A | ||
| ENST00000485889.1:n.351C>A | ||
| ENST00000492474.5:n.370C>A | ||
| ENST00000536378.5:c.-377C>A | ENSP00000444286.2:n.-377C>A | |
| ENST00000539477.5:c.-285C>A | ENSP00000443665.1:n.-285C>A | |
| NM_000249.3:c.347C>A , LRG_216t1:c.347C>A | NP_000240.1:p.Thr116Lys | |
| NM_001167617.1:c.53C>A | NP_001161089.1:p.Thr18Lys | |
| NM_001167618.1:c.-377C>A | NP_001161090.1:n.-377C>A | |
| NM_001167619.1:c.-285C>A | NP_001161091.1:n.-285C>A | |
| NM_001258271.1:c.347C>A | NP_001245200.1:p.Thr116Lys | |
| NM_001258273.1:c.-377C>A | NP_001245202.1:n.-377C>A | |
| NM_001258274.1:c.-377C>A | NP_001245203.1:n.-377C>A | |
| XM_005265161.1:c.347C>A | XP_005265218.1:p.Thr116Lys | |
| XM_005265163.1:c.-377C>A | XP_005265220.1:n.-377C>A | |
| XM_005265164.1:c.-377C>A | XP_005265221.1:n.-377C>A | |
| XM_005265166.1:c.-583C>A | XP_005265223.1:n.-583C>A | |
| XM_011533727.1:c.-480C>A | XP_011532029.1:n.-480C>A | |
| NM_001167617.2:c.53C>A | NP_001161089.1:p.Thr18Lys | |
| NM_001167618.2:c.-377C>A | NP_001161090.1:n.-377C>A | |
| NM_001167619.2:c.-285C>A | NP_001161091.1:n.-285C>A | |
| NM_001258274.2:c.-377C>A | NP_001245203.1:n.-377C>A | |
| NM_001354615.1:c.-285C>A | NP_001341544.1:n.-285C>A | |
| NM_001354616.1:c.-285C>A | NP_001341545.1:n.-285C>A | |
| NM_001354617.1:c.-377C>A | NP_001341546.1:n.-377C>A | |
| NM_001354618.1:c.-377C>A | NP_001341547.1:n.-377C>A | |
| NM_001354619.1:c.-377C>A | NP_001341548.1:n.-377C>A | |
| NM_001354620.1:c.53C>A | NP_001341549.1:p.Thr18Lys | |
| NM_001354621.1:c.-470C>A | NP_001341550.1:n.-470C>A | |
| NM_001354622.1:c.-583C>A | NP_001341551.1:n.-583C>A | |
| NM_001354623.1:c.-583C>A | NP_001341552.1:n.-583C>A | |
| NM_001354624.1:c.-480C>A | NP_001341553.1:n.-480C>A | |
| NM_001354625.1:c.-388C>A | NP_001341554.1:n.-388C>A | |
| NM_001354626.1:c.-480C>A | NP_001341555.1:n.-480C>A | |
| NM_001354627.1:c.-480C>A | NP_001341556.1:n.-480C>A | |
| NM_001354628.1:c.347C>A | NP_001341557.1:p.Thr116Lys | |
| NM_001354629.1:c.248C>A | NP_001341558.1:p.Thr83Lys | |
| NM_001354630.1:c.347C>A | NP_001341559.1:p.Thr116Lys | |
| XM_005265161.2:c.347C>A | XP_005265218.1:p.Thr116Lys | |
| XM_017006450.2:c.-470C>A | XP_016861939.1:n.-470C>A | |
| NM_000249.4:c.347C>A MANE Select | NP_000240.1:p.Thr116Lys | |
| NM_001167617.3:c.53C>A | NP_001161089.1:p.Thr18Lys | |
| NM_001167618.3:c.-377C>A | NP_001161090.1:n.-377C>A | |
| NM_001167619.3:c.-285C>A | NP_001161091.1:n.-285C>A | |
| NM_001258271.2:c.347C>A | NP_001245200.1:p.Thr116Lys | |
| NM_001258273.2:c.-377C>A | NP_001245202.1:n.-377C>A | |
| NM_001258274.3:c.-377C>A | NP_001245203.1:n.-377C>A | |
| NM_001354615.2:c.-285C>A | NP_001341544.1:n.-285C>A | |
| NM_001354616.2:c.-285C>A | NP_001341545.1:n.-285C>A | |
| NM_001354617.2:c.-377C>A | NP_001341546.1:n.-377C>A | |
| NM_001354618.2:c.-377C>A | NP_001341547.1:n.-377C>A | |
| NM_001354619.2:c.-377C>A | NP_001341548.1:n.-377C>A | |
| NM_001354620.2:c.53C>A | NP_001341549.1:p.Thr18Lys | |
| NM_001354621.2:c.-470C>A | NP_001341550.1:n.-470C>A | |
| NM_001354622.2:c.-583C>A | NP_001341551.1:n.-583C>A | |
| NM_001354623.2:c.-583C>A | NP_001341552.1:n.-583C>A | |
| NM_001354624.2:c.-480C>A | NP_001341553.1:n.-480C>A | |
| NM_001354625.2:c.-388C>A | NP_001341554.1:n.-388C>A | |
| NM_001354626.2:c.-480C>A | NP_001341555.1:n.-480C>A | |
| NM_001354627.2:c.-480C>A | NP_001341556.1:n.-480C>A | |
| NM_001354628.2:c.347C>A | NP_001341557.1:p.Thr116Lys | |
| NM_001354629.2:c.248C>A | NP_001341558.1:p.Thr83Lys | |
| NM_001354630.2:c.347C>A | NP_001341559.1:p.Thr116Lys |