Linked Data
ClinVar Variation Id:
305492
ClinVar RCV Id:
RCV000359276
dbSNP Id:
rs188544089
gnomAD v2:
11-6634349-A-G
gnomAD v3:
11-6613118-A-G
gnomAD v4:
11-6613118-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6613118A>G , CM000673.2:g.6613118A>G | GRCh38 |
| NC_000011.9:g.6634349A>G , CM000673.1:g.6634349A>G | GRCh37 |
| NC_000011.8:g.6590925A>G | NCBI36 |
| NG_008653.1:g.11344T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.*1428T>C | ENSP00000507321.1:n.*1428T>C | |
| ENST00000299427.12:c.*1428T>C MANE Select | ENSP00000299427.6:n.*1428T>C | |
| ENST00000524611.2:n.2159T>C | ||
| ENST00000533371.6:c.*1428T>C | ENSP00000437066.1:n.*1428T>C | |
| ENST00000642892.1:c.*1428T>C | ENSP00000494165.1:n.*1428T>C | |
| ENST00000643439.1:c.*2860T>C | ENSP00000495849.1:n.*2860T>C | |
| ENST00000643479.1:n.3306T>C | ||
| ENST00000643516.1:c.2629T>C | ||
| ENST00000644218.1:c.*1428T>C | ENSP00000493574.1:n.*1428T>C | |
| ENST00000644683.1:c.*2573T>C | ENSP00000494085.1:n.*2573T>C | |
| ENST00000644810.1:c.*1428T>C | ENSP00000495895.1:n.*1428T>C | |
| ENST00000644831.1:n.3296T>C | ||
| ENST00000644933.1:c.*1986T>C | ENSP00000496133.1:n.*1986T>C | |
| ENST00000645285.1:c.*1986T>C | ENSP00000495058.1:n.*1986T>C | |
| ENST00000645331.1:n.4325T>C | ||
| ENST00000645620.1:c.*1428T>C | ENSP00000493657.1:n.*1428T>C | |
| ENST00000646691.1:n.3007T>C | ||
| ENST00000646777.1:n.3453T>C | ||
| ENST00000647016.1:n.3600T>C | ||
| ENST00000647152.1:c.*1428T>C | ENSP00000495893.1:n.*1428T>C | |
| ENST00000647209.1:c.*2989T>C | ENSP00000495558.1:n.*2989T>C | |
| ENST00000647346.1:n.4140T>C | ||
| ENST00000299427.10:c.*1428T>C | ENSP00000299427.6:n.*1428T>C | |
| ENST00000533371.5:c.*1428T>C | ENSP00000437066.1:n.*1428T>C | |
| NM_000391.3:c.*1428T>C | NP_000382.3:n.*1428T>C | |
| NM_000391.4:c.*1428T>C MANE Select | NP_000382.3:n.*1428T>C |