Linked Data
ClinVar Variation Id:
527783
ClinVar RCV Id:
RCV001391778
dbSNP Id:
rs776858324
gnomAD v4:
11-6617118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617118G>A , CM000673.2:g.6617118G>A | GRCh38 |
| NC_000011.9:g.6638349G>A , CM000673.1:g.6638349G>A | GRCh37 |
| NC_000011.8:g.6594925G>A | NCBI36 |
| NG_008653.1:g.7344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.430C>T | ENSP00000507321.1:p.Leu144= | |
| ENST00000299427.12:c.544C>T MANE Select | ENSP00000299427.6:p.Leu182= | |
| ENST00000428886.7:n.779C>T | ||
| ENST00000436873.7:c.312+183C>T | ||
| ENST00000524788.2:n.1703C>T | ||
| ENST00000524903.2:n.1819C>T | ||
| ENST00000528807.2:n.200C>T | ||
| ENST00000530040.2:n.479+241C>T | ||
| ENST00000533371.6:c.-186C>T | ENSP00000437066.1:n.-186C>T | |
| ENST00000534644.6:n.492C>T | ||
| ENST00000642892.1:c.-186C>T | ENSP00000494165.1:n.-186C>T | |
| ENST00000643439.1:c.*284C>T | ENSP00000495849.1:n.*284C>T | |
| ENST00000643479.1:n.573C>T | ||
| ENST00000643516.1:c.395+183C>T | ||
| ENST00000644151.1:n.1983C>T | ||
| ENST00000644218.1:c.544C>T | ENSP00000493574.1:p.Leu182= | |
| ENST00000644683.1:c.486C>T | ENSP00000494085.1:p.Pro162= | |
| ENST00000644810.1:c.265C>T | ENSP00000495895.1:p.Leu89= | |
| ENST00000644831.1:n.720C>T | ||
| ENST00000644933.1:c.-186C>T | ENSP00000496133.1:n.-186C>T | |
| ENST00000645020.1:n.1719C>T | ||
| ENST00000645285.1:c.-186C>T | ENSP00000495058.1:n.-186C>T | |
| ENST00000645331.1:n.910C>T | ||
| ENST00000645620.1:c.-186C>T | ENSP00000493657.1:n.-186C>T | |
| ENST00000646777.1:n.720C>T | ||
| ENST00000647016.1:n.1024C>T | ||
| ENST00000647152.1:c.-186C>T | ENSP00000495893.1:n.-186C>T | |
| ENST00000647209.1:c.*413C>T | ENSP00000495558.1:n.*413C>T | |
| ENST00000647346.1:n.1564C>T | ||
| ENST00000299427.10:c.544C>T | ENSP00000299427.6:p.Leu182= | |
| ENST00000428886.6:n.713C>T | ||
| ENST00000436873.6:c.450+241C>T | ENSP00000398136.2:n.450+241C>T | |
| ENST00000524788.1:n.244C>T | ||
| ENST00000528571.5:c.*284C>T | ENSP00000434647.1:n.*284C>T | |
| ENST00000528807.1:n.94C>T | ||
| ENST00000533371.5:c.-186C>T | ENSP00000437066.1:n.-186C>T | |
| ENST00000534644.5:n.529C>T | ||
| ENST00000611494.4:c.544C>T | ENSP00000484546.1:p.Leu182= | |
| NM_000391.3:c.544C>T | NP_000382.3:p.Leu182= | |
| NM_000391.4:c.544C>T MANE Select | NP_000382.3:p.Leu182= |