Linked Data
ClinVar Variation Id:
1371569
ClinVar RCV Id:
RCV001864584
dbSNP Id:
rs753822217
ExAC:
11:6638561 G / A
gnomAD v2:
11-6638561-G-A
gnomAD v4:
11-6617330-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617330G>A , CM000673.2:g.6617330G>A | GRCh38 |
| NC_000011.9:g.6638561G>A , CM000673.1:g.6638561G>A | GRCh37 |
| NC_000011.8:g.6595137G>A | NCBI36 |
| NG_008653.1:g.7132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.365C>T | ENSP00000507321.1:p.Pro122Leu | |
| ENST00000299427.12:c.479C>T MANE Select | ENSP00000299427.6:p.Pro160Leu | |
| ENST00000428886.7:n.567C>T | ||
| ENST00000436873.7:c.283C>T | ||
| ENST00000524788.2:n.1491C>T | ||
| ENST00000524903.2:n.1607C>T | ||
| ENST00000528571.6:c.*219C>T | ENSP00000434647.1:n.*219C>T | |
| ENST00000528807.2:n.135C>T | ||
| ENST00000530040.2:n.479+29C>T | ||
| ENST00000533371.6:c.-251C>T | ENSP00000437066.1:n.-251C>T | |
| ENST00000534644.6:n.456+24C>T | ||
| ENST00000642892.1:c.-222+24C>T | ENSP00000494165.1:n.-222+24C>T | |
| ENST00000643439.1:c.*219C>T | ENSP00000495849.1:n.*219C>T | |
| ENST00000643479.1:n.508C>T | ||
| ENST00000643516.1:c.366C>T | ||
| ENST00000644151.1:n.1771C>T | ||
| ENST00000644218.1:c.479C>T | ENSP00000493574.1:p.Pro160Leu | |
| ENST00000644683.1:c.450+29C>T | ENSP00000494085.1:n.450+29C>T | |
| ENST00000644810.1:c.230-177C>T | ENSP00000495895.1:n.230-177C>T | |
| ENST00000644831.1:n.508C>T | ||
| ENST00000644933.1:c.-251C>T | ENSP00000496133.1:n.-251C>T | |
| ENST00000645020.1:n.1507C>T | ||
| ENST00000645285.1:c.-251C>T | ENSP00000495058.1:n.-251C>T | |
| ENST00000645331.1:n.698C>T | ||
| ENST00000645620.1:c.-222+29C>T | ENSP00000493657.1:n.-222+29C>T | |
| ENST00000646777.1:n.508C>T | ||
| ENST00000647016.1:n.812C>T | ||
| ENST00000647152.1:c.-251C>T | ENSP00000495893.1:n.-251C>T | |
| ENST00000647209.1:c.*348C>T | ENSP00000495558.1:n.*348C>T | |
| ENST00000647346.1:n.1499C>T | ||
| ENST00000299427.10:c.479C>T | ENSP00000299427.6:p.Pro160Leu | |
| ENST00000428886.6:n.501C>T | ||
| ENST00000436873.6:c.450+29C>T | ENSP00000398136.2:n.450+29C>T | |
| ENST00000524788.1:n.32C>T | ||
| ENST00000528571.5:c.*219C>T | ENSP00000434647.1:n.*219C>T | |
| ENST00000533371.5:c.-251C>T | ENSP00000437066.1:n.-251C>T | |
| ENST00000534644.5:n.464C>T | ||
| ENST00000611494.4:c.479C>T | ENSP00000484546.1:p.Pro160Leu | |
| NM_000391.3:c.479C>T | NP_000382.3:p.Pro160Leu | |
| NM_000391.4:c.479C>T MANE Select | NP_000382.3:p.Pro160Leu |