Linked Data
ClinVar Variation Id:
132807
ClinVar RCV Id:
RCV000119276
dbSNP Id:
rs587777389
PubMed:
PMID:24165795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9720793G>A , CM000663.2:g.9720793G>A | GRCh38 |
| NC_000001.10:g.9780851G>A , CM000663.1:g.9780851G>A | GRCh37 |
| NC_000001.9:g.9703438G>A | NCBI36 |
| NG_023434.1:g.74062G>A , LRG_191:g.74062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481137.2:c.*827G>A | ENSP00000513886.1:n.*827G>A | |
| ENST00000698709.1:c.1573G>A | ENSP00000513887.1:p.Glu525Lys | |
| ENST00000698710.1:c.1570G>A | ENSP00000513888.1:p.Glu524Lys | |
| ENST00000698712.1:c.1573G>A | ENSP00000513889.1:p.Glu525Lys | |
| ENST00000698713.1:c.1573G>A | ENSP00000513890.1:p.Glu525Lys | |
| ENST00000698714.1:c.1573G>A | ENSP00000513891.1:p.Glu525Lys | |
| ENST00000698715.1:c.1570G>A | ENSP00000513892.1:p.Glu524Lys | |
| ENST00000698716.1:c.1561G>A | ENSP00000513893.1:p.Glu521Lys | |
| ENST00000698718.1:n.643G>A | ||
| ENST00000698788.1:n.402G>A | ||
| ENST00000698789.1:c.249G>A | ||
| ENST00000377346.9:c.1573G>A MANE Select | ENSP00000366563.4:p.Glu525Lys | |
| ENST00000361110.6:c.1645G>A | ENSP00000354410.2:p.Glu549Lys | |
| ENST00000377346.8:c.1573G>A | ENSP00000366563.4:p.Glu525Lys | |
| ENST00000536656.5:c.1645G>A | ENSP00000446444.2:p.Glu549Lys | |
| ENST00000543390.2:c.1645G>A | ENSP00000443811.2:p.Glu549Lys | |
| ENST00000628140.2:c.1645G>A | ENSP00000486826.1:p.Glu549Lys | |
| NM_005026.3:c.1573G>A , LRG_191t1:c.1573G>A | NP_005017.3:p.Glu525Lys | |
| XM_005263473.1:c.1570G>A | XP_005263530.1:p.Glu524Lys | |
| XM_006710686.1:c.1573G>A | XP_006710749.1:p.Glu525Lys | |
| XM_006710687.1:c.1573G>A | XP_006710750.1:p.Glu525Lys | |
| XM_006710688.1:c.1573G>A | XP_006710751.1:p.Glu525Lys | |
| XM_006710689.1:c.1573G>A | XP_006710752.1:p.Glu525Lys | |
| XM_006710690.1:c.1486G>A | XP_006710753.1:p.Glu496Lys | |
| XM_011541581.1:c.1573G>A | XP_011539883.1:p.Glu525Lys | |
| XM_011541582.1:c.1573G>A | XP_011539884.1:p.Glu525Lys | |
| XM_011541583.1:c.925G>A | XP_011539885.1:p.Glu309Lys | |
| XR_946667.1:n.1782G>A | ||
| NM_001350234.1:c.1570G>A | NP_001337163.1:p.Glu524Lys | |
| NM_001350235.1:c.1486G>A | NP_001337164.1:p.Glu496Lys | |
| NM_005026.4:c.1573G>A | NP_005017.3:p.Glu525Lys | |
| XM_006710687.2:c.1573G>A | XP_006710750.1:p.Glu525Lys | |
| XM_006710689.2:c.1573G>A | XP_006710752.1:p.Glu525Lys | |
| XM_017001476.1:c.1750G>A | XP_016856965.1:p.Glu584Lys | |
| XM_017001477.1:c.1750G>A | XP_016856966.1:p.Glu584Lys | |
| XM_017001478.1:c.1750G>A | XP_016856967.1:p.Glu584Lys | |
| XM_017001479.1:c.1750G>A | XP_016856968.1:p.Glu584Lys | |
| XM_017001480.1:c.1750G>A | XP_016856969.1:p.Glu584Lys | |
| XM_017001481.1:c.1750G>A | XP_016856970.1:p.Glu584Lys | |
| XM_017001482.2:c.1750G>A | XP_016856971.1:p.Glu584Lys | |
| XM_017001483.2:c.1663G>A | XP_016856972.1:p.Glu555Lys | |
| XM_024447661.1:c.1750G>A | XP_024303429.1:p.Glu584Lys | |
| XM_024447663.1:c.1570G>A | XP_024303431.1:p.Glu524Lys | |
| XM_024447664.1:c.1486G>A | XP_024303432.1:p.Glu496Lys | |
| XR_002956806.1:n.1782G>A | ||
| NM_001350234.2:c.1570G>A | NP_001337163.1:p.Glu524Lys | |
| NM_005026.5:c.1573G>A MANE Select | NP_005017.3:p.Glu525Lys |