Linked Data
ClinVar Variation Id:
312654
dbSNP Id:
rs201174299
ExAC:
14:102506982 C / G
gnomAD v2:
14-102506982-C-G
gnomAD v3:
14-102040645-C-G
gnomAD v4:
14-102040645-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102040645C>G , CM000676.2:g.102040645C>G | GRCh38 |
| NC_000014.8:g.102506982C>G , CM000676.1:g.102506982C>G | GRCh37 |
| NC_000014.7:g.101576735C>G | NCBI36 |
| NG_008777.1:g.81118C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3372C>G | ENSP00000506816.1:n.*3372C>G | |
| ENST00000360184.10:c.11913C>G MANE Select | ENSP00000348965.4:p.Pro3971= | |
| ENST00000553701.1:n.347-3876G>C | ||
| ENST00000556139.2:n.465C>G | ||
| ENST00000556499.3:n.146C>G | ||
| ENST00000557242.1:n.329-3876G>C | ||
| ENST00000557551.1:n.111+3648G>C | ||
| ENST00000643437.1:n.1867C>G | ||
| ENST00000643829.1:n.1742C>G | ||
| ENST00000644794.1:n.2032C>G | ||
| ENST00000644881.2:c.11913C>G | ENSP00000495022.2:p.Pro3971= | |
| ENST00000645039.2:c.11690+913C>G | ENSP00000495220.2:n.11690+913C>G | |
| ENST00000645085.1:n.187+913C>G | ||
| ENST00000645149.2:c.11766C>G | ENSP00000495944.2:p.Pro3922= | |
| ENST00000645697.1:n.2576C>G | ||
| ENST00000647204.2:n.1154C>G | ||
| ENST00000647366.1:n.5467C>G | ||
| ENST00000679486.1:c.11913C>G | ENSP00000506688.1:p.Pro3971= | |
| ENST00000679629.1:c.11738C>G | ENSP00000505589.1:p.Pro3913Arg | |
| ENST00000679720.1:c.11913C>G | ENSP00000505938.1:p.Pro3971= | |
| ENST00000679910.1:c.*2995C>G | ENSP00000506521.1:n.*2995C>G | |
| ENST00000680120.1:c.11913C>G | ENSP00000504863.1:p.Pro3971= | |
| ENST00000680200.1:c.*1172C>G | ENSP00000506166.1:n.*1172C>G | |
| ENST00000680313.1:c.11913C>G | ENSP00000506208.1:p.Pro3971= | |
| ENST00000680423.1:c.*3644C>G | ENSP00000505483.1:n.*3644C>G | |
| ENST00000680715.1:c.11913C>G | ENSP00000505332.1:p.Pro3971= | |
| ENST00000681010.1:c.11913C>G | ENSP00000505201.1:p.Pro3971= | |
| ENST00000681066.1:c.11865+235C>G | ENSP00000506344.1:n.11865+235C>G | |
| ENST00000681123.1:c.11942C>G | ENSP00000506124.1:p.Pro3981Arg | |
| ENST00000681283.1:c.*625C>G | ENSP00000505667.1:n.*625C>G | |
| ENST00000681536.1:c.*5112C>G | ENSP00000505821.1:n.*5112C>G | |
| ENST00000681574.1:c.11913C>G | ENSP00000505523.1:p.Pro3971= | |
| ENST00000681822.1:c.11913C>G | ENSP00000505744.1:p.Pro3971= | |
| ENST00000360184.8:c.11913C>G | ENSP00000348965.4:p.Pro3971= | |
| ENST00000556139.1:n.465C>G | ||
| ENST00000556499.1:n.71C>G | ||
| NM_001376.4:c.11913C>G | NP_001367.2:p.Pro3971= | |
| NM_001376.5:c.11913C>G MANE Select | NP_001367.2:p.Pro3971= |