Linked Data
ClinVar Variation Id:
552559
ClinVar RCV Id:
RCV000667845
dbSNP Id:
rs796053439
gnomAD v2:
11-6637945-T-G
gnomAD v4:
11-6616714-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616714T>G , CM000673.2:g.6616714T>G | GRCh38 |
| NC_000011.9:g.6637945T>G , CM000673.1:g.6637945T>G | GRCh37 |
| NC_000011.8:g.6594521T>G | NCBI36 |
| NG_008653.1:g.7748A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.719A>C | ENSP00000507321.1:p.Gln240Pro | |
| ENST00000299427.12:c.833A>C MANE Select | ENSP00000299427.6:p.Gln278Pro | |
| ENST00000436873.7:c.312+587A>C | ||
| ENST00000524788.2:n.1992A>C | ||
| ENST00000524903.2:n.2108A>C | ||
| ENST00000528807.2:n.489A>C | ||
| ENST00000530040.2:n.480-211A>C | ||
| ENST00000533371.6:c.104A>C | ENSP00000437066.1:p.Gln35Pro | |
| ENST00000642892.1:c.104A>C | ENSP00000494165.1:p.Gln35Pro | |
| ENST00000643439.1:c.*573A>C | ENSP00000495849.1:n.*573A>C | |
| ENST00000643479.1:n.862A>C | ||
| ENST00000643516.1:c.396-211A>C | ||
| ENST00000644151.1:n.2272A>C | ||
| ENST00000644218.1:c.833A>C | ENSP00000493574.1:p.Gln278Pro | |
| ENST00000644683.1:c.*286A>C | ENSP00000494085.1:n.*286A>C | |
| ENST00000644810.1:c.554A>C | ENSP00000495895.1:p.Gln185Pro | |
| ENST00000644831.1:n.1009A>C | ||
| ENST00000644933.1:c.104A>C | ENSP00000496133.1:p.Gln35Pro | |
| ENST00000645020.1:n.2123A>C | ||
| ENST00000645285.1:c.104A>C | ENSP00000495058.1:p.Gln35Pro | |
| ENST00000645331.1:n.1199A>C | ||
| ENST00000645620.1:c.104A>C | ENSP00000493657.1:p.Gln35Pro | |
| ENST00000646777.1:n.1009A>C | ||
| ENST00000647016.1:n.1313A>C | ||
| ENST00000647152.1:c.104A>C | ENSP00000495893.1:p.Gln35Pro | |
| ENST00000647209.1:c.*702A>C | ENSP00000495558.1:n.*702A>C | |
| ENST00000647346.1:n.1853A>C | ||
| ENST00000299427.10:c.833A>C | ENSP00000299427.6:p.Gln278Pro | |
| ENST00000436873.6:c.451-211A>C | ENSP00000398136.2:n.451-211A>C | |
| ENST00000524788.1:n.533A>C | ||
| ENST00000528807.1:n.383A>C | ||
| ENST00000533371.5:c.104A>C | ENSP00000437066.1:p.Gln35Pro | |
| ENST00000611494.4:c.833A>C | ENSP00000484546.1:p.Gln278Pro | |
| NM_000391.3:c.833A>C | NP_000382.3:p.Gln278Pro | |
| NM_000391.4:c.833A>C MANE Select | NP_000382.3:p.Gln278Pro |