Linked Data
ClinVar Variation Id:
305506
dbSNP Id:
rs372564255
ExAC:
11:6635816 G / C
gnomAD v2:
11-6635816-G-C
gnomAD v3:
11-6614585-G-C
gnomAD v4:
11-6614585-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614585G>C , CM000673.2:g.6614585G>C | GRCh38 |
| NC_000011.9:g.6635816G>C , CM000673.1:g.6635816G>C | GRCh37 |
| NC_000011.8:g.6592392G>C | NCBI36 |
| NG_008653.1:g.9877C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1539C>G | ENSP00000507321.1:p.Pro513= | |
| ENST00000299427.12:c.1653C>G MANE Select | ENSP00000299427.6:p.Pro551= | |
| ENST00000524611.2:n.692C>G | ||
| ENST00000533371.6:c.924C>G | ENSP00000437066.1:p.Pro308= | |
| ENST00000642892.1:c.924C>G | ENSP00000494165.1:p.Pro308= | |
| ENST00000643342.1:c.726C>G | ||
| ENST00000643439.1:c.*1393C>G | ENSP00000495849.1:n.*1393C>G | |
| ENST00000643479.1:n.1839C>G | ||
| ENST00000643516.1:c.1162C>G | ||
| ENST00000644218.1:c.1464C>G | ENSP00000493574.1:p.Pro488= | |
| ENST00000644683.1:c.*1106C>G | ENSP00000494085.1:n.*1106C>G | |
| ENST00000644810.1:c.1374C>G | ENSP00000495895.1:p.Pro458= | |
| ENST00000644831.1:n.1829C>G | ||
| ENST00000644933.1:c.*519C>G | ENSP00000496133.1:n.*519C>G | |
| ENST00000645285.1:c.*519C>G | ENSP00000495058.1:n.*519C>G | |
| ENST00000645331.1:n.2858C>G | ||
| ENST00000645620.1:c.924C>G | ENSP00000493657.1:p.Pro308= | |
| ENST00000646691.1:n.1540C>G | ||
| ENST00000646777.1:n.1986C>G | ||
| ENST00000647016.1:n.2133C>G | ||
| ENST00000647152.1:c.924C>G | ENSP00000495893.1:p.Pro308= | |
| ENST00000647209.1:c.*1522C>G | ENSP00000495558.1:n.*1522C>G | |
| ENST00000647346.1:n.2673C>G | ||
| ENST00000299427.10:c.1653C>G | ENSP00000299427.6:p.Pro551= | |
| ENST00000533371.5:c.924C>G | ENSP00000437066.1:p.Pro308= | |
| ENST00000611494.4:c.1652C>G | ENSP00000484546.1:p.Pro551Arg | |
| NM_000391.3:c.1653C>G | NP_000382.3:p.Pro551= | |
| NM_000391.4:c.1653C>G MANE Select | NP_000382.3:p.Pro551= |