Linked Data
ClinVar Variation Id:
220346
ClinVar RCV Id:
RCV001309100
dbSNP Id:
rs864622485
gnomAD v4:
3-36993658-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993658G>T , CM000665.2:g.36993658G>T | GRCh38 |
| NC_000003.11:g.37035149G>T , CM000665.1:g.37035149G>T | GRCh37 |
| NC_000003.10:g.37010153G>T | NCBI36 |
| NG_007109.2:g.5309G>T , LRG_216:g.5309G>T | |
| NG_008418.1:g.4647C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.111G>T | ENSP00000416476.2:p.Glu37Asp | |
| ENST00000450420.6:c.111G>T | ENSP00000393006.2:p.Glu37Asp | |
| ENST00000456676.7:c.111G>T | ENSP00000416687.3:p.Glu37Asp | |
| ENST00000458009.6:c.111G>T | ENSP00000411066.2:p.Glu37Asp | |
| ENST00000616768.6:c.111G>T | ENSP00000480669.3:p.Glu37Asp | |
| ENST00000673673.2:c.111G>T | ENSP00000500979.2:p.Glu37Asp | |
| ENST00000231790.8:c.111G>T MANE Select | ENSP00000231790.3:p.Glu37Asp | |
| ENST00000432299.6:c.111G>T | ENSP00000416783.1:p.Glu37Asp | |
| ENST00000442249.6:n.126G>T | ||
| ENST00000673673.1:c.64G>T | ||
| ENST00000673713.1:n.142G>T | ||
| ENST00000673715.1:c.111G>T | ENSP00000501301.1:p.Glu37Asp | |
| ENST00000673897.1:c.111G>T | ENSP00000501109.1:p.Glu37Asp | |
| ENST00000673899.1:c.111G>T | ENSP00000501030.1:p.Glu37Asp | |
| ENST00000673947.1:c.111G>T | ENSP00000501304.1:p.Glu37Asp | |
| ENST00000673972.1:c.111G>T | ENSP00000501281.1:p.Glu37Asp | |
| ENST00000674111.1:c.111G>T | ENSP00000501162.1:p.Glu37Asp | |
| ENST00000231790.6:c.111G>T | ENSP00000231790.2:p.Glu37Asp | |
| ENST00000432299.5:c.111G>T | ENSP00000416783.1:p.Glu37Asp | |
| ENST00000442249.5:c.111G>T | ENSP00000387511.1:p.Glu37Asp | |
| ENST00000454028.5:c.111G>T | ENSP00000392649.1:p.Glu37Asp | |
| ENST00000456676.6:c.86G>T | ||
| ENST00000457004.5:c.111G>T | ENSP00000407773.1:p.Glu37Asp | |
| ENST00000536378.5:c.-522G>T | ENSP00000444286.2:n.-522G>T | |
| NM_000249.3:c.111G>T , LRG_216t1:c.111G>T | NP_000240.1:p.Glu37Asp | |
| NM_001258271.1:c.111G>T | NP_001245200.1:p.Glu37Asp | |
| NM_001258273.1:c.-522G>T | NP_001245202.1:n.-522G>T | |
| XM_005265161.1:c.111G>T | XP_005265218.1:p.Glu37Asp | |
| XM_005265164.1:c.-608G>T | XP_005265221.1:n.-608G>T | |
| NM_001167617.2:c.-406G>T | NP_001161089.1:n.-406G>T | |
| NM_001167618.2:c.-835G>T | NP_001161090.1:n.-835G>T | |
| NM_001167619.2:c.-748G>T | NP_001161091.1:n.-748G>T | |
| NM_001258274.2:c.-985G>T | NP_001245203.1:n.-985G>T | |
| NM_001354615.1:c.-516G>T | NP_001341544.1:n.-516G>T | |
| NM_001354616.1:c.-516G>T | NP_001341545.1:n.-516G>T | |
| NM_001354617.1:c.-608G>T | NP_001341546.1:n.-608G>T | |
| NM_001354618.1:c.-840G>T | NP_001341547.1:n.-840G>T | |
| NM_001354619.1:c.-964G>T | NP_001341548.1:n.-964G>T | |
| NM_001354620.1:c.-174G>T | NP_001341549.1:n.-174G>T | |
| NM_001354621.1:c.-933G>T | NP_001341550.1:n.-933G>T | |
| NM_001354622.1:c.-1046G>T | NP_001341551.1:n.-1046G>T | |
| NM_001354623.1:c.-955G>T | NP_001341552.1:n.-955G>T | |
| NM_001354624.1:c.-716G>T | NP_001341553.1:n.-716G>T | |
| NM_001354625.1:c.-614G>T | NP_001341554.1:n.-614G>T | |
| NM_001354626.1:c.-711G>T | NP_001341555.1:n.-711G>T | |
| NM_001354627.1:c.-943G>T | NP_001341556.1:n.-943G>T | |
| NM_001354628.1:c.111G>T | NP_001341557.1:p.Glu37Asp | |
| NM_001354629.1:c.111G>T | NP_001341558.1:p.Glu37Asp | |
| NM_001354630.1:c.111G>T | NP_001341559.1:p.Glu37Asp | |
| XM_005265161.2:c.111G>T | XP_005265218.1:p.Glu37Asp | |
| XM_017006450.2:c.-701G>T | XP_016861939.1:n.-701G>T | |
| NM_000249.4:c.111G>T MANE Select | NP_000240.1:p.Glu37Asp | |
| NM_001167617.3:c.-406G>T | NP_001161089.1:n.-406G>T | |
| NM_001167618.3:c.-835G>T | NP_001161090.1:n.-835G>T | |
| NM_001167619.3:c.-748G>T | NP_001161091.1:n.-748G>T | |
| NM_001258271.2:c.111G>T | NP_001245200.1:p.Glu37Asp | |
| NM_001258273.2:c.-522G>T | NP_001245202.1:n.-522G>T | |
| NM_001258274.3:c.-985G>T | NP_001245203.1:n.-985G>T | |
| NM_001354615.2:c.-516G>T | NP_001341544.1:n.-516G>T | |
| NM_001354616.2:c.-516G>T | NP_001341545.1:n.-516G>T | |
| NM_001354617.2:c.-608G>T | NP_001341546.1:n.-608G>T | |
| NM_001354618.2:c.-840G>T | NP_001341547.1:n.-840G>T | |
| NM_001354619.2:c.-964G>T | NP_001341548.1:n.-964G>T | |
| NM_001354620.2:c.-174G>T | NP_001341549.1:n.-174G>T | |
| NM_001354621.2:c.-933G>T | NP_001341550.1:n.-933G>T | |
| NM_001354622.2:c.-1046G>T | NP_001341551.1:n.-1046G>T | |
| NM_001354623.2:c.-955G>T | NP_001341552.1:n.-955G>T | |
| NM_001354624.2:c.-716G>T | NP_001341553.1:n.-716G>T | |
| NM_001354625.2:c.-614G>T | NP_001341554.1:n.-614G>T | |
| NM_001354626.2:c.-711G>T | NP_001341555.1:n.-711G>T | |
| NM_001354627.2:c.-943G>T | NP_001341556.1:n.-943G>T | |
| NM_001354628.2:c.111G>T | NP_001341557.1:p.Glu37Asp | |
| NM_001354629.2:c.111G>T | NP_001341558.1:p.Glu37Asp | |
| NM_001354630.2:c.111G>T | NP_001341559.1:p.Glu37Asp |