Linked Data
ClinVar Variation Id:
982727
ClinVar RCV Id:
RCV001262372
dbSNP Id:
rs776489592
ExAC:
11:6637935 C / T
gnomAD v2:
11-6637935-C-T
gnomAD v4:
11-6616704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616704C>T , CM000673.2:g.6616704C>T | GRCh38 |
| NC_000011.9:g.6637935C>T , CM000673.1:g.6637935C>T | GRCh37 |
| NC_000011.8:g.6594511C>T | NCBI36 |
| NG_008653.1:g.7758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.729G>A | ENSP00000507321.1:p.Met243Ile | |
| ENST00000299427.12:c.843G>A MANE Select | ENSP00000299427.6:p.Met281Ile | |
| ENST00000436873.7:c.312+597G>A | ||
| ENST00000524788.2:n.2002G>A | ||
| ENST00000524903.2:n.2118G>A | ||
| ENST00000528807.2:n.499G>A | ||
| ENST00000530040.2:n.480-201G>A | ||
| ENST00000533371.6:c.114G>A | ENSP00000437066.1:p.Met38Ile | |
| ENST00000642892.1:c.114G>A | ENSP00000494165.1:p.Met38Ile | |
| ENST00000643439.1:c.*583G>A | ENSP00000495849.1:n.*583G>A | |
| ENST00000643479.1:n.872G>A | ||
| ENST00000643516.1:c.396-201G>A | ||
| ENST00000644151.1:n.2282G>A | ||
| ENST00000644218.1:c.843G>A | ENSP00000493574.1:p.Met281Ile | |
| ENST00000644683.1:c.*296G>A | ENSP00000494085.1:n.*296G>A | |
| ENST00000644810.1:c.564G>A | ENSP00000495895.1:p.Met188Ile | |
| ENST00000644831.1:n.1019G>A | ||
| ENST00000644933.1:c.114G>A | ENSP00000496133.1:p.Met38Ile | |
| ENST00000645020.1:n.2133G>A | ||
| ENST00000645285.1:c.114G>A | ENSP00000495058.1:p.Met38Ile | |
| ENST00000645331.1:n.1209G>A | ||
| ENST00000645620.1:c.114G>A | ENSP00000493657.1:p.Met38Ile | |
| ENST00000646777.1:n.1019G>A | ||
| ENST00000647016.1:n.1323G>A | ||
| ENST00000647152.1:c.114G>A | ENSP00000495893.1:p.Met38Ile | |
| ENST00000647209.1:c.*712G>A | ENSP00000495558.1:n.*712G>A | |
| ENST00000647346.1:n.1863G>A | ||
| ENST00000299427.10:c.843G>A | ENSP00000299427.6:p.Met281Ile | |
| ENST00000436873.6:c.451-201G>A | ENSP00000398136.2:n.451-201G>A | |
| ENST00000524788.1:n.543G>A | ||
| ENST00000528807.1:n.393G>A | ||
| ENST00000533371.5:c.114G>A | ENSP00000437066.1:p.Met38Ile | |
| ENST00000611494.4:c.843G>A | ENSP00000484546.1:p.Met281Ile | |
| NM_000391.3:c.843G>A | NP_000382.3:p.Met281Ile | |
| NM_000391.4:c.843G>A MANE Select | NP_000382.3:p.Met281Ile |