Linked Data
ClinVar Variation Id:
217508
ClinVar RCV Id:
RCV000201520
dbSNP Id:
rs863225123
PubMed:
PMID:26072516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140678013A>C , CM000667.2:g.140678013A>C | GRCh38 |
| NC_000005.9:g.140057598A>C , CM000667.1:g.140057598A>C | GRCh37 |
| NC_000005.8:g.140037782A>C | NCBI36 |
| NG_032158.1:g.18374T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.183T>G | ENSP00000393244.2:p.Asp61Glu | |
| ENST00000504156.7:c.525T>G MANE Select | ENSP00000425634.1:p.Asp175Glu | |
| ENST00000506579.6:n.1596T>G | ||
| ENST00000507746.7:c.525T>G | ENSP00000425889.2:p.Asp175Glu | |
| ENST00000509087.2:c.181-2880T>G | ENSP00000502781.1:n.181-2880T>G | |
| ENST00000512396.6:c.*464T>G | ENSP00000421576.1:n.*464T>G | |
| ENST00000643686.1:c.*580T>G | ENSP00000493611.1:n.*580T>G | |
| ENST00000645491.1:c.*458T>G | ENSP00000494297.1:n.*458T>G | |
| ENST00000646229.1:c.576T>G | ||
| ENST00000674523.1:c.525T>G | ENSP00000501816.1:p.Asp175Glu | |
| ENST00000675094.1:n.1596T>G | ||
| ENST00000675204.1:c.525T>G | ENSP00000501643.1:p.Asp175Glu | |
| ENST00000675355.1:n.310T>G | ||
| ENST00000675366.1:c.525T>G | ENSP00000501747.1:p.Asp175Glu | |
| ENST00000675698.1:c.318T>G | ENSP00000501581.1:p.Asp106Glu | |
| ENST00000675763.1:n.2432T>G | ||
| ENST00000675827.1:c.525T>G | ENSP00000501900.1:p.Asp175Glu | |
| ENST00000675851.1:c.301-260T>G | ENSP00000502624.1:n.301-260T>G | |
| ENST00000675898.1:n.2343T>G | ||
| ENST00000675967.1:n.1985T>G | ||
| ENST00000676327.1:c.523-260T>G | ENSP00000502594.1:n.523-260T>G | |
| ENST00000307633.7:c.345T>G | ENSP00000304668.3:p.Asp115Glu | |
| ENST00000415192.6:c.303T>G | ENSP00000411085.2:p.Asp101Glu | |
| ENST00000431330.6:c.183T>G | ENSP00000393244.2:p.Asp61Glu | |
| ENST00000438307.6:c.405T>G | ENSP00000411511.2:p.Asp135Glu | |
| ENST00000457527.6:c.465T>G | ENSP00000387893.2:p.Asp155Glu | |
| ENST00000504156.5:c.525T>G | ENSP00000425634.1:p.Asp175Glu | |
| ENST00000504366.5:c.318T>G | ENSP00000430063.1:p.Asp106Glu | |
| ENST00000506579.5:n.1428T>G | ||
| ENST00000507746.5:c.301-260T>G | ENSP00000425889.1:n.301-260T>G | |
| NM_001258040.2:c.405T>G | NP_001244969.1:p.Asp135Glu | |
| NM_001258041.2:c.465T>G | NP_001244970.1:p.Asp155Glu | |
| NM_001258042.2:c.345T>G | NP_001244971.1:p.Asp115Glu | |
| NM_001289092.1:c.303T>G | NP_001276021.1:p.Asp101Glu | |
| NM_001289093.1:c.183T>G | NP_001276022.1:p.Asp61Glu | |
| NM_001289094.1:c.438T>G | NP_001276023.1:p.Asp146Glu | |
| NM_002109.5:c.525T>G | NP_002100.2:p.Asp175Glu | |
| NM_002109.6:c.525T>G MANE Select | NP_002100.2:p.Asp175Glu | |
| NM_001258040.3:c.405T>G | NP_001244969.1:p.Asp135Glu | |
| NM_001258041.3:c.465T>G | NP_001244970.1:p.Asp155Glu | |
| NM_001258042.3:c.345T>G | NP_001244971.1:p.Asp115Glu | |
| NM_001289092.2:c.303T>G | NP_001276021.1:p.Asp101Glu | |
| NM_001289093.2:c.183T>G | NP_001276022.1:p.Asp61Glu | |
| NM_001289094.2:c.438T>G | NP_001276023.1:p.Asp146Glu |