Linked Data
ClinVar Variation Id:
305501
ClinVar RCV Id:
RCV000405420
dbSNP Id:
rs886048539
gnomAD v3:
11-6613878-G-T
gnomAD v4:
11-6613878-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6613878G>T , CM000673.2:g.6613878G>T | GRCh38 |
| NC_000011.9:g.6635109G>T , CM000673.1:g.6635109G>T | GRCh37 |
| NC_000011.8:g.6591685G>T | NCBI36 |
| NG_008653.1:g.10584C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.*668C>A | ENSP00000507321.1:n.*668C>A | |
| ENST00000299427.12:c.*668C>A MANE Select | ENSP00000299427.6:n.*668C>A | |
| ENST00000524611.2:n.1399C>A | ||
| ENST00000533371.6:c.*668C>A | ENSP00000437066.1:n.*668C>A | |
| ENST00000642892.1:c.*668C>A | ENSP00000494165.1:n.*668C>A | |
| ENST00000643342.1:c.1433C>A | ||
| ENST00000643439.1:c.*2100C>A | ENSP00000495849.1:n.*2100C>A | |
| ENST00000643479.1:n.2546C>A | ||
| ENST00000643516.1:c.1869C>A | ||
| ENST00000644218.1:c.*668C>A | ENSP00000493574.1:n.*668C>A | |
| ENST00000644683.1:c.*1813C>A | ENSP00000494085.1:n.*1813C>A | |
| ENST00000644810.1:c.*668C>A | ENSP00000495895.1:n.*668C>A | |
| ENST00000644831.1:n.2536C>A | ||
| ENST00000644933.1:c.*1226C>A | ENSP00000496133.1:n.*1226C>A | |
| ENST00000645285.1:c.*1226C>A | ENSP00000495058.1:n.*1226C>A | |
| ENST00000645331.1:n.3565C>A | ||
| ENST00000645620.1:c.*668C>A | ENSP00000493657.1:n.*668C>A | |
| ENST00000646691.1:n.2247C>A | ||
| ENST00000646777.1:n.2693C>A | ||
| ENST00000647016.1:n.2840C>A | ||
| ENST00000647152.1:c.*668C>A | ENSP00000495893.1:n.*668C>A | |
| ENST00000647209.1:c.*2229C>A | ENSP00000495558.1:n.*2229C>A | |
| ENST00000647346.1:n.3380C>A | ||
| ENST00000299427.10:c.*668C>A | ENSP00000299427.6:n.*668C>A | |
| ENST00000533371.5:c.*668C>A | ENSP00000437066.1:n.*668C>A | |
| ENST00000611494.4:c.*688C>A | ENSP00000484546.1:n.*688C>A | |
| NM_000391.3:c.*668C>A | NP_000382.3:n.*668C>A | |
| NM_000391.4:c.*668C>A MANE Select | NP_000382.3:n.*668C>A |