Linked Data
ClinVar Variation Id:
972142
ClinVar RCV Id:
RCV001248103
dbSNP Id:
rs766934252
gnomAD v4:
11-6615522-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615522G>C , CM000673.2:g.6615522G>C | GRCh38 |
| NC_000011.9:g.6636753G>C , CM000673.1:g.6636753G>C | GRCh37 |
| NC_000011.8:g.6593329G>C | NCBI36 |
| NG_008653.1:g.8940C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1072C>G | ENSP00000507321.1:p.Pro358Ala | |
| ENST00000299427.12:c.1186C>G MANE Select | ENSP00000299427.6:p.Pro396Ala | |
| ENST00000436873.7:c.423C>G | ||
| ENST00000524924.2:n.306C>G | ||
| ENST00000533371.6:c.457C>G | ENSP00000437066.1:p.Pro153Ala | |
| ENST00000642892.1:c.457C>G | ENSP00000494165.1:p.Pro153Ala | |
| ENST00000643342.1:c.259C>G | ||
| ENST00000643439.1:c.*926C>G | ENSP00000495849.1:n.*926C>G | |
| ENST00000643479.1:n.1372C>G | ||
| ENST00000643516.1:c.695C>G | ||
| ENST00000644218.1:c.997C>G | ENSP00000493574.1:p.Pro333Ala | |
| ENST00000644683.1:c.*639C>G | ENSP00000494085.1:n.*639C>G | |
| ENST00000644810.1:c.907C>G | ENSP00000495895.1:p.Pro303Ala | |
| ENST00000644831.1:n.1362C>G | ||
| ENST00000644933.1:c.*52C>G | ENSP00000496133.1:n.*52C>G | |
| ENST00000645285.1:c.*52C>G | ENSP00000495058.1:n.*52C>G | |
| ENST00000645331.1:n.2391C>G | ||
| ENST00000645620.1:c.457C>G | ENSP00000493657.1:p.Pro153Ala | |
| ENST00000646691.1:n.961C>G | ||
| ENST00000646777.1:n.1519C>G | ||
| ENST00000647016.1:n.1666C>G | ||
| ENST00000647152.1:c.457C>G | ENSP00000495893.1:p.Pro153Ala | |
| ENST00000647209.1:c.*1055C>G | ENSP00000495558.1:n.*1055C>G | |
| ENST00000647346.1:n.2206C>G | ||
| ENST00000299427.10:c.1186C>G | ENSP00000299427.6:p.Pro396Ala | |
| ENST00000524924.1:n.141C>G | ||
| ENST00000532191.1:n.239C>G | ||
| ENST00000533371.5:c.457C>G | ENSP00000437066.1:p.Pro153Ala | |
| ENST00000611494.4:c.1186C>G | ENSP00000484546.1:p.Pro396Ala | |
| NM_000391.3:c.1186C>G | NP_000382.3:p.Pro396Ala | |
| NM_000391.4:c.1186C>G MANE Select | NP_000382.3:p.Pro396Ala |