Linked Data
ClinVar Variation Id:
266047
dbSNP Id:
rs372585344
ExAC:
4:170482986 A / T
gnomAD v2:
4-170482986-A-T
gnomAD v3:
4-169561835-A-T
gnomAD v4:
4-169561835-A-T
PubMed:
PMID:28089114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169561835A>T , CM000666.2:g.169561835A>T | GRCh38 |
| NC_000004.11:g.170482986A>T , CM000666.1:g.170482986A>T | GRCh37 |
| NC_000004.10:g.170719561A>T | NCBI36 |
| NG_027982.1:g.55793T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.1053T>A | ENSP00000508844.1:p.Asp351Glu | |
| ENST00000685677.1:n.435T>A | ||
| ENST00000686697.1:c.1137T>A | ENSP00000508689.1:p.Asp379Glu | |
| ENST00000687054.1:n.1715T>A | ||
| ENST00000687219.1:c.*775T>A | ENSP00000509736.1:n.*775T>A | |
| ENST00000687528.1:c.1137T>A | ENSP00000510228.1:p.Asp379Glu | |
| ENST00000687643.1:c.1164T>A | ENSP00000509309.1:p.Asp388Glu | |
| ENST00000688487.1:n.1500T>A | ||
| ENST00000688653.1:n.1714T>A | ||
| ENST00000688934.1:c.-133+50185T>A | ENSP00000510760.1:n.-133+50185T>A | |
| ENST00000690631.1:n.1714T>A | ||
| ENST00000692218.1:n.1791T>A | ||
| ENST00000692450.1:c.*934T>A | ENSP00000510283.1:n.*934T>A | |
| ENST00000692868.1:c.*720T>A | ENSP00000510531.1:n.*720T>A | |
| ENST00000693085.1:c.*964T>A | ENSP00000508746.1:n.*964T>A | |
| ENST00000693604.1:c.*191T>A | ENSP00000509917.1:n.*191T>A | |
| ENST00000507142.6:c.1137T>A MANE Select | ENSP00000424757.2:p.Asp379Glu | |
| ENST00000439128.6:c.1137T>A | ENSP00000408020.2:p.Asp379Glu | |
| ENST00000507142.5:c.1137T>A | ENSP00000424757.1:p.Asp379Glu | |
| ENST00000509912.5:n.869T>A | ||
| ENST00000510533.5:c.1137T>A | ENSP00000427653.1:p.Asp379Glu | |
| ENST00000511633.5:c.1137T>A | ENSP00000423332.1:p.Asp379Glu | |
| ENST00000512193.5:c.1137T>A | ENSP00000424938.1:p.Asp379Glu | |
| NM_001199397.1:c.1137T>A | NP_001186326.1:p.Asp379Glu | |
| NM_001199398.1:c.1137T>A | NP_001186327.1:p.Asp379Glu | |
| NM_001199399.1:c.1137T>A | NP_001186328.1:p.Asp379Glu | |
| NM_001199400.1:c.1137T>A | NP_001186329.1:p.Asp379Glu | |
| NM_012224.2:c.1137T>A | NP_036356.1:p.Asp379Glu | |
| XM_006714228.1:c.1137T>A | XP_006714291.1:p.Asp379Glu | |
| XM_011532003.1:c.1137T>A | XP_011530305.1:p.Asp379Glu | |
| XM_011532004.1:c.1137T>A | XP_011530306.1:p.Asp379Glu | |
| XM_011532005.1:c.1137T>A | XP_011530307.1:p.Asp379Glu | |
| XM_011532005.2:c.1137T>A | XP_011530307.1:p.Asp379Glu | |
| XM_017008249.1:c.516T>A | XP_016863738.1:p.Asp172Glu | |
| XM_017008251.1:c.516T>A | XP_016863740.1:p.Asp172Glu | |
| XM_017008252.2:c.516T>A | XP_016863741.1:p.Asp172Glu | |
| XM_017008253.1:c.-16T>A | XP_016863742.1:n.-16T>A | |
| XM_017008254.1:c.-370T>A | XP_016863743.1:n.-370T>A | |
| XM_024454065.1:c.516T>A | XP_024309833.1:p.Asp172Glu | |
| XR_001741233.1:n.1717T>A | ||
| XR_001741234.2:n.1662T>A | ||
| NM_001199397.3:c.1137T>A MANE Select | NP_001186326.1:p.Asp379Glu | |
| NM_001199398.2:c.1137T>A | NP_001186327.1:p.Asp379Glu | |
| NM_001199399.2:c.1137T>A | NP_001186328.1:p.Asp379Glu | |
| NM_001199400.2:c.1137T>A | NP_001186329.1:p.Asp379Glu | |
| NM_001374418.1:c.1137T>A | NP_001361347.1:p.Asp379Glu | |
| NM_001374419.1:c.1137T>A | NP_001361348.1:p.Asp379Glu | |
| NM_001374420.1:c.1137T>A | NP_001361349.1:p.Asp379Glu | |
| NM_001374421.1:c.1137T>A | NP_001361350.1:p.Asp379Glu | |
| NM_001374422.1:c.1137T>A | NP_001361351.1:p.Asp379Glu | |
| NM_001374423.1:c.1137T>A | NP_001361352.1:p.Asp379Glu | |
| NM_012224.3:c.1137T>A | NP_036356.1:p.Asp379Glu | |
| NR_164630.1:n.1651T>A | ||
| NR_164631.1:n.1518T>A | ||
| NM_001199398.3:c.1137T>A | NP_001186327.1:p.Asp379Glu | |
| NM_001199399.3:c.1137T>A | NP_001186328.1:p.Asp379Glu | |
| NM_001199400.3:c.1137T>A | NP_001186329.1:p.Asp379Glu | |
| NM_012224.4:c.1137T>A | NP_036356.1:p.Asp379Glu |