Linked Data
ClinVar Variation Id:
1507047
ClinVar RCV Id:
RCV002038260
dbSNP Id:
rs1273909575
gnomAD v2:
11-6638607-G-C
gnomAD v3:
11-6617376-G-C
gnomAD v4:
11-6617376-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617376G>C , CM000673.2:g.6617376G>C | GRCh38 |
| NC_000011.9:g.6638607G>C , CM000673.1:g.6638607G>C | GRCh37 |
| NC_000011.8:g.6595183G>C | NCBI36 |
| NG_008653.1:g.7086C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.319C>G | ENSP00000507321.1:p.Pro107Ala | |
| ENST00000299427.12:c.433C>G MANE Select | ENSP00000299427.6:p.Pro145Ala | |
| ENST00000428886.7:n.521C>G | ||
| ENST00000436873.7:c.237C>G | ||
| ENST00000524788.2:n.1445C>G | ||
| ENST00000524903.2:n.1561C>G | ||
| ENST00000528571.6:c.*173C>G | ENSP00000434647.1:n.*173C>G | |
| ENST00000528807.2:n.89C>G | ||
| ENST00000530040.2:n.462C>G | ||
| ENST00000533371.6:c.-297C>G | ENSP00000437066.1:n.-297C>G | |
| ENST00000534644.6:n.434C>G | ||
| ENST00000642892.1:c.-244C>G | ENSP00000494165.1:n.-244C>G | |
| ENST00000643439.1:c.*173C>G | ENSP00000495849.1:n.*173C>G | |
| ENST00000643479.1:n.462C>G | ||
| ENST00000643516.1:c.320C>G | ||
| ENST00000644151.1:n.1725C>G | ||
| ENST00000644218.1:c.433C>G | ENSP00000493574.1:p.Pro145Ala | |
| ENST00000644683.1:c.433C>G | ENSP00000494085.1:p.Pro145Ala | |
| ENST00000644810.1:c.230-223C>G | ENSP00000495895.1:n.230-223C>G | |
| ENST00000644831.1:n.462C>G | ||
| ENST00000644933.1:c.-297C>G | ENSP00000496133.1:n.-297C>G | |
| ENST00000645020.1:n.1461C>G | ||
| ENST00000645285.1:c.-297C>G | ENSP00000495058.1:n.-297C>G | |
| ENST00000645331.1:n.652C>G | ||
| ENST00000645620.1:c.-239C>G | ENSP00000493657.1:n.-239C>G | |
| ENST00000646777.1:n.462C>G | ||
| ENST00000647016.1:n.766C>G | ||
| ENST00000647152.1:c.-297C>G | ENSP00000495893.1:n.-297C>G | |
| ENST00000647209.1:c.*302C>G | ENSP00000495558.1:n.*302C>G | |
| ENST00000647346.1:n.1453C>G | ||
| ENST00000299427.10:c.433C>G | ENSP00000299427.6:p.Pro145Ala | |
| ENST00000428886.6:n.455C>G | ||
| ENST00000436873.6:c.433C>G | ENSP00000398136.2:p.Pro145Ala | |
| ENST00000528571.5:c.*173C>G | ENSP00000434647.1:n.*173C>G | |
| ENST00000530040.1:n.545C>G | ||
| ENST00000533371.5:c.-297C>G | ENSP00000437066.1:n.-297C>G | |
| ENST00000534644.5:n.418C>G | ||
| ENST00000611494.4:c.433C>G | ENSP00000484546.1:p.Pro145Ala | |
| NM_000391.3:c.433C>G | NP_000382.3:p.Pro145Ala | |
| NM_000391.4:c.433C>G MANE Select | NP_000382.3:p.Pro145Ala |