Linked Data
ClinVar Variation Id:
305489
ClinVar RCV Id:
RCV000363243
dbSNP Id:
rs7488
gnomAD v2:
11-6634149-C-T
gnomAD v3:
11-6612918-C-T
gnomAD v4:
11-6612918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6612918C>T , CM000673.2:g.6612918C>T | GRCh38 |
| NC_000011.9:g.6634149C>T , CM000673.1:g.6634149C>T | GRCh37 |
| NC_000011.8:g.6590725C>T | NCBI36 |
| NG_008653.1:g.11544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.*1628G>A | ENSP00000507321.1:n.*1628G>A | |
| ENST00000299427.12:c.*1628G>A MANE Select | ENSP00000299427.6:n.*1628G>A | |
| ENST00000524611.2:n.2359G>A | ||
| ENST00000533371.6:c.*1628G>A | ENSP00000437066.1:n.*1628G>A | |
| ENST00000642892.1:c.*1628G>A | ENSP00000494165.1:n.*1628G>A | |
| ENST00000643439.1:c.*3060G>A | ENSP00000495849.1:n.*3060G>A | |
| ENST00000643479.1:n.3506G>A | ||
| ENST00000643516.1:c.2829G>A | ||
| ENST00000644218.1:c.*1628G>A | ENSP00000493574.1:n.*1628G>A | |
| ENST00000644683.1:c.*2773G>A | ENSP00000494085.1:n.*2773G>A | |
| ENST00000644810.1:c.*1628G>A | ENSP00000495895.1:n.*1628G>A | |
| ENST00000644831.1:n.3496G>A | ||
| ENST00000644933.1:c.*2186G>A | ENSP00000496133.1:n.*2186G>A | |
| ENST00000645285.1:c.*2186G>A | ENSP00000495058.1:n.*2186G>A | |
| ENST00000645331.1:n.4525G>A | ||
| ENST00000645620.1:c.*1628G>A | ENSP00000493657.1:n.*1628G>A | |
| ENST00000646691.1:n.3207G>A | ||
| ENST00000646777.1:n.3653G>A | ||
| ENST00000647152.1:c.*1628G>A | ENSP00000495893.1:n.*1628G>A | |
| ENST00000299427.10:c.*1628G>A | ENSP00000299427.6:n.*1628G>A | |
| ENST00000533371.5:c.*1628G>A | ENSP00000437066.1:n.*1628G>A | |
| NM_000391.3:c.*1628G>A | NP_000382.3:n.*1628G>A | |
| NM_000391.4:c.*1628G>A MANE Select | NP_000382.3:n.*1628G>A |