Linked Data
ClinVar Variation Id:
1508186
ClinVar RCV Id:
RCV002013814
dbSNP Id:
rs2134592126
gnomAD v4:
11-6615521-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615521G>A , CM000673.2:g.6615521G>A | GRCh38 |
| NC_000011.9:g.6636752G>A , CM000673.1:g.6636752G>A | GRCh37 |
| NC_000011.8:g.6593328G>A | NCBI36 |
| NG_008653.1:g.8941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1073C>T | ENSP00000507321.1:p.Pro358Leu | |
| ENST00000299427.12:c.1187C>T MANE Select | ENSP00000299427.6:p.Pro396Leu | |
| ENST00000436873.7:c.424C>T | ||
| ENST00000524924.2:n.307C>T | ||
| ENST00000533371.6:c.458C>T | ENSP00000437066.1:p.Pro153Leu | |
| ENST00000642892.1:c.458C>T | ENSP00000494165.1:p.Pro153Leu | |
| ENST00000643342.1:c.260C>T | ||
| ENST00000643439.1:c.*927C>T | ENSP00000495849.1:n.*927C>T | |
| ENST00000643479.1:n.1373C>T | ||
| ENST00000643516.1:c.696C>T | ||
| ENST00000644218.1:c.998C>T | ENSP00000493574.1:p.Pro333Leu | |
| ENST00000644683.1:c.*640C>T | ENSP00000494085.1:n.*640C>T | |
| ENST00000644810.1:c.908C>T | ENSP00000495895.1:p.Pro303Leu | |
| ENST00000644831.1:n.1363C>T | ||
| ENST00000644933.1:c.*53C>T | ENSP00000496133.1:n.*53C>T | |
| ENST00000645285.1:c.*53C>T | ENSP00000495058.1:n.*53C>T | |
| ENST00000645331.1:n.2392C>T | ||
| ENST00000645620.1:c.458C>T | ENSP00000493657.1:p.Pro153Leu | |
| ENST00000646691.1:n.962C>T | ||
| ENST00000646777.1:n.1520C>T | ||
| ENST00000647016.1:n.1667C>T | ||
| ENST00000647152.1:c.458C>T | ENSP00000495893.1:p.Pro153Leu | |
| ENST00000647209.1:c.*1056C>T | ENSP00000495558.1:n.*1056C>T | |
| ENST00000647346.1:n.2207C>T | ||
| ENST00000299427.10:c.1187C>T | ENSP00000299427.6:p.Pro396Leu | |
| ENST00000524924.1:n.142C>T | ||
| ENST00000532191.1:n.240C>T | ||
| ENST00000533371.5:c.458C>T | ENSP00000437066.1:p.Pro153Leu | |
| ENST00000611494.4:c.1187C>T | ENSP00000484546.1:p.Pro396Leu | |
| NM_000391.3:c.1187C>T | NP_000382.3:p.Pro396Leu | |
| NM_000391.4:c.1187C>T MANE Select | NP_000382.3:p.Pro396Leu |