Linked Data
ClinVar Variation Id:
2040231
ClinVar RCV Id:
RCV002886319
dbSNP Id:
rs1855547773
gnomAD v4:
11-6614648-C-T
MyVariant Identifiers:
chr11:g.6635879C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614648C>T , CM000673.2:g.6614648C>T | GRCh38 |
| NC_000011.9:g.6635879C>T , CM000673.1:g.6635879C>T | GRCh37 |
| NC_000011.8:g.6592455C>T | NCBI36 |
| NG_008653.1:g.9814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1476G>A | ENSP00000507321.1:p.Glu492= | |
| ENST00000299427.12:c.1590G>A MANE Select | ENSP00000299427.6:p.Glu530= | |
| ENST00000524611.2:n.629G>A | ||
| ENST00000524924.2:n.710G>A | ||
| ENST00000533371.6:c.861G>A | ENSP00000437066.1:p.Glu287= | |
| ENST00000642892.1:c.861G>A | ENSP00000494165.1:p.Glu287= | |
| ENST00000643342.1:c.663G>A | ||
| ENST00000643439.1:c.*1330G>A | ENSP00000495849.1:n.*1330G>A | |
| ENST00000643479.1:n.1776G>A | ||
| ENST00000643516.1:c.1099G>A | ||
| ENST00000644218.1:c.1401G>A | ENSP00000493574.1:p.Glu467= | |
| ENST00000644683.1:c.*1043G>A | ENSP00000494085.1:n.*1043G>A | |
| ENST00000644810.1:c.1311G>A | ENSP00000495895.1:p.Glu437= | |
| ENST00000644831.1:n.1766G>A | ||
| ENST00000644933.1:c.*456G>A | ENSP00000496133.1:n.*456G>A | |
| ENST00000645285.1:c.*456G>A | ENSP00000495058.1:n.*456G>A | |
| ENST00000645331.1:n.2795G>A | ||
| ENST00000645620.1:c.861G>A | ENSP00000493657.1:p.Glu287= | |
| ENST00000646691.1:n.1477G>A | ||
| ENST00000646777.1:n.1923G>A | ||
| ENST00000647016.1:n.2070G>A | ||
| ENST00000647152.1:c.861G>A | ENSP00000495893.1:p.Glu287= | |
| ENST00000647209.1:c.*1459G>A | ENSP00000495558.1:n.*1459G>A | |
| ENST00000647346.1:n.2610G>A | ||
| ENST00000299427.10:c.1590G>A | ENSP00000299427.6:p.Glu530= | |
| ENST00000524611.1:n.468G>A | ||
| ENST00000533371.5:c.861G>A | ENSP00000437066.1:p.Glu287= | |
| ENST00000611494.4:c.1590G>A | ENSP00000484546.1:p.Glu530= | |
| NM_000391.3:c.1590G>A | NP_000382.3:p.Glu530= | |
| NM_000391.4:c.1590G>A MANE Select | NP_000382.3:p.Glu530= |