Linked Data
ClinVar Variation Id:
305493
ClinVar RCV Id:
RCV000264580
dbSNP Id:
rs886048535
gnomAD v2:
11-6634365-A-C
gnomAD v3:
11-6613134-A-C
gnomAD v4:
11-6613134-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6613134A>C , CM000673.2:g.6613134A>C | GRCh38 |
| NC_000011.9:g.6634365A>C , CM000673.1:g.6634365A>C | GRCh37 |
| NC_000011.8:g.6590941A>C | NCBI36 |
| NG_008653.1:g.11328T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.*1412T>G | ENSP00000507321.1:n.*1412T>G | |
| ENST00000299427.12:c.*1412T>G MANE Select | ENSP00000299427.6:n.*1412T>G | |
| ENST00000524611.2:n.2143T>G | ||
| ENST00000533371.6:c.*1412T>G | ENSP00000437066.1:n.*1412T>G | |
| ENST00000642892.1:c.*1412T>G | ENSP00000494165.1:n.*1412T>G | |
| ENST00000643439.1:c.*2844T>G | ENSP00000495849.1:n.*2844T>G | |
| ENST00000643479.1:n.3290T>G | ||
| ENST00000643516.1:c.2613T>G | ||
| ENST00000644218.1:c.*1412T>G | ENSP00000493574.1:n.*1412T>G | |
| ENST00000644683.1:c.*2557T>G | ENSP00000494085.1:n.*2557T>G | |
| ENST00000644810.1:c.*1412T>G | ENSP00000495895.1:n.*1412T>G | |
| ENST00000644831.1:n.3280T>G | ||
| ENST00000644933.1:c.*1970T>G | ENSP00000496133.1:n.*1970T>G | |
| ENST00000645285.1:c.*1970T>G | ENSP00000495058.1:n.*1970T>G | |
| ENST00000645331.1:n.4309T>G | ||
| ENST00000645620.1:c.*1412T>G | ENSP00000493657.1:n.*1412T>G | |
| ENST00000646691.1:n.2991T>G | ||
| ENST00000646777.1:n.3437T>G | ||
| ENST00000647016.1:n.3584T>G | ||
| ENST00000647152.1:c.*1412T>G | ENSP00000495893.1:n.*1412T>G | |
| ENST00000647209.1:c.*2973T>G | ENSP00000495558.1:n.*2973T>G | |
| ENST00000647346.1:n.4124T>G | ||
| ENST00000299427.10:c.*1412T>G | ENSP00000299427.6:n.*1412T>G | |
| ENST00000533371.5:c.*1412T>G | ENSP00000437066.1:n.*1412T>G | |
| NM_000391.3:c.*1412T>G | NP_000382.3:n.*1412T>G | |
| NM_000391.4:c.*1412T>G MANE Select | NP_000382.3:n.*1412T>G |