Linked Data
ClinVar Variation Id:
207552
dbSNP Id:
rs149986601
ExAC:
11:6638361 G / C
gnomAD v2:
11-6638361-G-C
gnomAD v3:
11-6617130-G-C
gnomAD v4:
11-6617130-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617130G>C , CM000673.2:g.6617130G>C | GRCh38 |
| NC_000011.9:g.6638361G>C , CM000673.1:g.6638361G>C | GRCh37 |
| NC_000011.8:g.6594937G>C | NCBI36 |
| NG_008653.1:g.7332C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.418C>G | ENSP00000507321.1:p.Pro140Ala | |
| ENST00000299427.12:c.532C>G MANE Select | ENSP00000299427.6:p.Pro178Ala | |
| ENST00000428886.7:n.767C>G | ||
| ENST00000436873.7:c.312+171C>G | ||
| ENST00000524788.2:n.1691C>G | ||
| ENST00000524903.2:n.1807C>G | ||
| ENST00000528807.2:n.188C>G | ||
| ENST00000530040.2:n.479+229C>G | ||
| ENST00000533371.6:c.-198C>G | ENSP00000437066.1:n.-198C>G | |
| ENST00000534644.6:n.480C>G | ||
| ENST00000642892.1:c.-198C>G | ENSP00000494165.1:n.-198C>G | |
| ENST00000643439.1:c.*272C>G | ENSP00000495849.1:n.*272C>G | |
| ENST00000643479.1:n.561C>G | ||
| ENST00000643516.1:c.395+171C>G | ||
| ENST00000644151.1:n.1971C>G | ||
| ENST00000644218.1:c.532C>G | ENSP00000493574.1:p.Pro178Ala | |
| ENST00000644683.1:c.474C>G | ENSP00000494085.1:p.Pro158= | |
| ENST00000644810.1:c.253C>G | ENSP00000495895.1:p.Pro85Ala | |
| ENST00000644831.1:n.708C>G | ||
| ENST00000644933.1:c.-198C>G | ENSP00000496133.1:n.-198C>G | |
| ENST00000645020.1:n.1707C>G | ||
| ENST00000645285.1:c.-198C>G | ENSP00000495058.1:n.-198C>G | |
| ENST00000645331.1:n.898C>G | ||
| ENST00000645620.1:c.-198C>G | ENSP00000493657.1:n.-198C>G | |
| ENST00000646777.1:n.708C>G | ||
| ENST00000647016.1:n.1012C>G | ||
| ENST00000647152.1:c.-198C>G | ENSP00000495893.1:n.-198C>G | |
| ENST00000647209.1:c.*401C>G | ENSP00000495558.1:n.*401C>G | |
| ENST00000647346.1:n.1552C>G | ||
| ENST00000299427.10:c.532C>G | ENSP00000299427.6:p.Pro178Ala | |
| ENST00000428886.6:n.701C>G | ||
| ENST00000436873.6:c.450+229C>G | ENSP00000398136.2:n.450+229C>G | |
| ENST00000524788.1:n.232C>G | ||
| ENST00000528571.5:c.*272C>G | ENSP00000434647.1:n.*272C>G | |
| ENST00000528807.1:n.82C>G | ||
| ENST00000533371.5:c.-198C>G | ENSP00000437066.1:n.-198C>G | |
| ENST00000534644.5:n.517C>G | ||
| ENST00000611494.4:c.532C>G | ENSP00000484546.1:p.Pro178Ala | |
| NM_000391.3:c.532C>G | NP_000382.3:p.Pro178Ala | |
| NM_000391.4:c.532C>G MANE Select | NP_000382.3:p.Pro178Ala |