Linked Data
ClinVar Variation Id:
2760597
ClinVar RCV Id:
RCV003572215
gnomAD v4:
11-6614615-G-A
MyVariant Identifiers:
chr11:g.6635846G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614615G>A , CM000673.2:g.6614615G>A | GRCh38 |
| NC_000011.9:g.6635846G>A , CM000673.1:g.6635846G>A | GRCh37 |
| NC_000011.8:g.6592422G>A | NCBI36 |
| NG_008653.1:g.9847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1509C>T | ENSP00000507321.1:p.Gly503= | |
| ENST00000299427.12:c.1623C>T MANE Select | ENSP00000299427.6:p.Gly541= | |
| ENST00000524611.2:n.662C>T | ||
| ENST00000524924.2:n.743C>T | ||
| ENST00000533371.6:c.894C>T | ENSP00000437066.1:p.Gly298= | |
| ENST00000642892.1:c.894C>T | ENSP00000494165.1:p.Gly298= | |
| ENST00000643342.1:c.696C>T | ||
| ENST00000643439.1:c.*1363C>T | ENSP00000495849.1:n.*1363C>T | |
| ENST00000643479.1:n.1809C>T | ||
| ENST00000643516.1:c.1132C>T | ||
| ENST00000644218.1:c.1434C>T | ENSP00000493574.1:p.Gly478= | |
| ENST00000644683.1:c.*1076C>T | ENSP00000494085.1:n.*1076C>T | |
| ENST00000644810.1:c.1344C>T | ENSP00000495895.1:p.Gly448= | |
| ENST00000644831.1:n.1799C>T | ||
| ENST00000644933.1:c.*489C>T | ENSP00000496133.1:n.*489C>T | |
| ENST00000645285.1:c.*489C>T | ENSP00000495058.1:n.*489C>T | |
| ENST00000645331.1:n.2828C>T | ||
| ENST00000645620.1:c.894C>T | ENSP00000493657.1:p.Gly298= | |
| ENST00000646691.1:n.1510C>T | ||
| ENST00000646777.1:n.1956C>T | ||
| ENST00000647016.1:n.2103C>T | ||
| ENST00000647152.1:c.894C>T | ENSP00000495893.1:p.Gly298= | |
| ENST00000647209.1:c.*1492C>T | ENSP00000495558.1:n.*1492C>T | |
| ENST00000647346.1:n.2643C>T | ||
| ENST00000299427.10:c.1623C>T | ENSP00000299427.6:p.Gly541= | |
| ENST00000533371.5:c.894C>T | ENSP00000437066.1:p.Gly298= | |
| ENST00000611494.4:c.1623C>T | ENSP00000484546.1:p.Gly541= | |
| NM_000391.3:c.1623C>T | NP_000382.3:p.Gly541= | |
| NM_000391.4:c.1623C>T MANE Select | NP_000382.3:p.Gly541= |