Linked Data
ClinVar Variation Id:
1443267
dbSNP Id:
rs753351050
ExAC:
11:6638363 G / A
gnomAD v2:
11-6638363-G-A
gnomAD v4:
11-6617132-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617132G>A , CM000673.2:g.6617132G>A | GRCh38 |
| NC_000011.9:g.6638363G>A , CM000673.1:g.6638363G>A | GRCh37 |
| NC_000011.8:g.6594939G>A | NCBI36 |
| NG_008653.1:g.7330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.416C>T | ENSP00000507321.1:p.Pro139Leu | |
| ENST00000299427.12:c.530C>T MANE Select | ENSP00000299427.6:p.Pro177Leu | |
| ENST00000428886.7:n.765C>T | ||
| ENST00000436873.7:c.312+169C>T | ||
| ENST00000524788.2:n.1689C>T | ||
| ENST00000524903.2:n.1805C>T | ||
| ENST00000528807.2:n.186C>T | ||
| ENST00000530040.2:n.479+227C>T | ||
| ENST00000533371.6:c.-200C>T | ENSP00000437066.1:n.-200C>T | |
| ENST00000534644.6:n.478C>T | ||
| ENST00000642892.1:c.-200C>T | ENSP00000494165.1:n.-200C>T | |
| ENST00000643439.1:c.*270C>T | ENSP00000495849.1:n.*270C>T | |
| ENST00000643479.1:n.559C>T | ||
| ENST00000643516.1:c.395+169C>T | ||
| ENST00000644151.1:n.1969C>T | ||
| ENST00000644218.1:c.530C>T | ENSP00000493574.1:p.Pro177Leu | |
| ENST00000644683.1:c.472C>T | ENSP00000494085.1:p.Pro158Ser | |
| ENST00000644810.1:c.251C>T | ENSP00000495895.1:p.Pro84Leu | |
| ENST00000644831.1:n.706C>T | ||
| ENST00000644933.1:c.-200C>T | ENSP00000496133.1:n.-200C>T | |
| ENST00000645020.1:n.1705C>T | ||
| ENST00000645285.1:c.-200C>T | ENSP00000495058.1:n.-200C>T | |
| ENST00000645331.1:n.896C>T | ||
| ENST00000645620.1:c.-200C>T | ENSP00000493657.1:n.-200C>T | |
| ENST00000646777.1:n.706C>T | ||
| ENST00000647016.1:n.1010C>T | ||
| ENST00000647152.1:c.-200C>T | ENSP00000495893.1:n.-200C>T | |
| ENST00000647209.1:c.*399C>T | ENSP00000495558.1:n.*399C>T | |
| ENST00000647346.1:n.1550C>T | ||
| ENST00000299427.10:c.530C>T | ENSP00000299427.6:p.Pro177Leu | |
| ENST00000428886.6:n.699C>T | ||
| ENST00000436873.6:c.450+227C>T | ENSP00000398136.2:n.450+227C>T | |
| ENST00000524788.1:n.230C>T | ||
| ENST00000528571.5:c.*270C>T | ENSP00000434647.1:n.*270C>T | |
| ENST00000528807.1:n.80C>T | ||
| ENST00000533371.5:c.-200C>T | ENSP00000437066.1:n.-200C>T | |
| ENST00000534644.5:n.515C>T | ||
| ENST00000611494.4:c.530C>T | ENSP00000484546.1:p.Pro177Leu | |
| NM_000391.3:c.530C>T | NP_000382.3:p.Pro177Leu | |
| NM_000391.4:c.530C>T MANE Select | NP_000382.3:p.Pro177Leu |