Linked Data
ClinVar Variation Id:
527746
dbSNP Id:
rs756530648
ExAC:
11:6636213 G / C
gnomAD v2:
11-6636213-G-C
gnomAD v4:
11-6614982-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614982G>C , CM000673.2:g.6614982G>C | GRCh38 |
| NC_000011.9:g.6636213G>C , CM000673.1:g.6636213G>C | GRCh37 |
| NC_000011.8:g.6592789G>C | NCBI36 |
| NG_008653.1:g.9480C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1321C>G | ENSP00000507321.1:p.Pro441Ala | |
| ENST00000299427.12:c.1435C>G MANE Select | ENSP00000299427.6:p.Pro479Ala | |
| ENST00000524611.2:n.295C>G | ||
| ENST00000524924.2:n.555C>G | ||
| ENST00000533371.6:c.706C>G | ENSP00000437066.1:p.Pro236Ala | |
| ENST00000642892.1:c.706C>G | ENSP00000494165.1:p.Pro236Ala | |
| ENST00000643342.1:c.508C>G | ||
| ENST00000643439.1:c.*1175C>G | ENSP00000495849.1:n.*1175C>G | |
| ENST00000643479.1:n.1621C>G | ||
| ENST00000643516.1:c.944C>G | ||
| ENST00000644218.1:c.1246C>G | ENSP00000493574.1:p.Pro416Ala | |
| ENST00000644683.1:c.*888C>G | ENSP00000494085.1:n.*888C>G | |
| ENST00000644810.1:c.1156C>G | ENSP00000495895.1:p.Pro386Ala | |
| ENST00000644831.1:n.1611C>G | ||
| ENST00000644933.1:c.*301C>G | ENSP00000496133.1:n.*301C>G | |
| ENST00000645285.1:c.*301C>G | ENSP00000495058.1:n.*301C>G | |
| ENST00000645331.1:n.2640C>G | ||
| ENST00000645620.1:c.706C>G | ENSP00000493657.1:p.Pro236Ala | |
| ENST00000646691.1:n.1322C>G | ||
| ENST00000646777.1:n.1768C>G | ||
| ENST00000647016.1:n.1915C>G | ||
| ENST00000647152.1:c.706C>G | ENSP00000495893.1:p.Pro236Ala | |
| ENST00000647209.1:c.*1304C>G | ENSP00000495558.1:n.*1304C>G | |
| ENST00000647346.1:n.2455C>G | ||
| ENST00000299427.10:c.1435C>G | ENSP00000299427.6:p.Pro479Ala | |
| ENST00000524611.1:n.313C>G | ||
| ENST00000533371.5:c.706C>G | ENSP00000437066.1:p.Pro236Ala | |
| ENST00000611494.4:c.1435C>G | ENSP00000484546.1:p.Pro479Ala | |
| NM_000391.3:c.1435C>G | NP_000382.3:p.Pro479Ala | |
| NM_000391.4:c.1435C>G MANE Select | NP_000382.3:p.Pro479Ala |