Linked Data
ClinVar Variation Id:
30859
ClinVar RCV Id:
RCV000023844
dbSNP Id:
rs387907032
PubMed:
PMID:20865121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127501011G>A , CM000671.2:g.127501011G>A | GRCh38 |
| NC_000009.11:g.130263290G>A , CM000671.1:g.130263290G>A | GRCh37 |
| NC_000009.10:g.129303111G>A | NCBI36 |
| NG_032008.1:g.54526G>A , LRG_373:g.54526G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1914G>A MANE Select | ENSP00000300417.6:p.Glu638= | |
| ENST00000472068.2:c.*1638G>A | ENSP00000501555.1:n.*1638G>A | |
| ENST00000483302.6:n.2579G>A | ||
| ENST00000498513.6:c.*805G>A | ENSP00000501637.1:n.*805G>A | |
| ENST00000674511.1:n.1513G>A | ||
| ENST00000674516.1:c.*530G>A | ENSP00000502441.1:n.*530G>A | |
| ENST00000674621.1:n.1861-2362G>A | ||
| ENST00000674771.1:c.*557G>A | ENSP00000502627.1:n.*557G>A | |
| ENST00000674784.1:c.*974G>A | ENSP00000501837.1:n.*974G>A | |
| ENST00000674970.1:c.*1688G>A | ENSP00000502493.1:n.*1688G>A | |
| ENST00000675012.1:n.1858G>A | ||
| ENST00000675141.1:c.1815G>A | ENSP00000502420.1:p.Glu605= | |
| ENST00000675198.1:n.1794G>A | ||
| ENST00000675213.1:c.1869G>A | ENSP00000502218.1:p.Glu623= | |
| ENST00000675224.1:c.1942G>A | ENSP00000501869.1:p.Ala648Thr | |
| ENST00000675253.1:c.*586G>A | ENSP00000502557.1:n.*586G>A | |
| ENST00000675445.1:c.*1586G>A | ENSP00000502253.1:n.*1586G>A | |
| ENST00000675448.1:c.1914G>A | ENSP00000502167.1:p.Glu638= | |
| ENST00000675521.1:n.1824G>A | ||
| ENST00000675572.1:c.1815G>A | ENSP00000501598.1:p.Glu605= | |
| ENST00000675641.1:c.*656G>A | ENSP00000501845.1:n.*656G>A | |
| ENST00000675657.1:c.*527G>A | ENSP00000502002.1:n.*527G>A | |
| ENST00000675662.1:n.1709G>A | ||
| ENST00000675789.1:c.1734G>A | ENSP00000501954.1:p.Glu578= | |
| ENST00000675883.1:c.1833G>A | ENSP00000501592.1:p.Glu611= | |
| ENST00000675945.1:c.*555G>A | ENSP00000501835.1:n.*555G>A | |
| ENST00000676014.1:c.1857G>A | ENSP00000502058.1:p.Glu619= | |
| ENST00000676035.1:n.1576G>A | ||
| ENST00000676106.1:n.1951G>A | ||
| ENST00000676137.1:n.1944G>A | ||
| ENST00000676170.1:c.1995G>A | ENSP00000502177.1:p.Glu665= | |
| ENST00000676318.1:c.*2744G>A | ENSP00000502300.1:n.*2744G>A | |
| ENST00000676336.1:c.*527G>A | ENSP00000502686.1:n.*527G>A | |
| ENST00000676349.1:c.*1602G>A | ENSP00000502155.1:n.*1602G>A | |
| ENST00000676399.1:n.1817G>A | ||
| ENST00000676409.1:n.1974G>A | ||
| ENST00000300417.10:c.1914G>A | ENSP00000300417.6:p.Glu638= | |
| ENST00000323301.8:c.1914G>A | ENSP00000322937.4:p.Glu638= | |
| ENST00000373322.1:c.1914G>A | ENSP00000362419.1:p.Glu638= | |
| ENST00000373324.8:c.1833G>A | ENSP00000362421.4:p.Glu611= | |
| ENST00000472068.1:n.807G>A | ||
| ENST00000483302.5:n.1136G>A | ||
| NM_001005373.3:c.1914G>A | NP_001005373.1:p.Glu638= | |
| NM_001005374.3:c.1914G>A | NP_001005374.1:p.Glu638= | |
| NM_001190723.2:c.1833G>A | NP_001177652.1:p.Glu611= | |
| NM_138361.5:c.1914G>A , LRG_373t1:c.1914G>A | NP_612370.3:p.Glu638= | |
| XM_006717316.2:c.1815G>A | XP_006717379.1:p.Glu605= | |
| XM_006717316.4:c.1815G>A | XP_006717379.1:p.Glu605= | |
| XM_017015283.1:c.1914G>A | XP_016870772.1:p.Glu638= | |
| XM_017015284.2:c.1125G>A | XP_016870773.1:p.Glu375= | |
| XR_001746415.2:n.2449G>A | ||
| XR_929874.3:n.2273G>A | ||
| NM_001190723.3:c.1833G>A | NP_001177652.1:p.Glu611= | |
| NM_001005373.4:c.1914G>A MANE Select | NP_001005373.1:p.Glu638= | |
| NM_001005374.4:c.1914G>A | NP_001005374.1:p.Glu638= | |
| NM_001384142.1:c.1914G>A | NP_001371071.1:p.Glu638= | |
| NM_001384143.1:c.1815G>A | NP_001371072.1:p.Glu605= | |
| NM_001384144.1:c.1125G>A | NP_001371073.1:p.Glu375= | |
| NR_168891.1:n.2443G>A | ||
| NR_168892.1:n.2267G>A |