Linked Data
ClinVar Variation Id:
312667
dbSNP Id:
rs138571942
ExAC:
14:102516430 G / C
gnomAD v2:
14-102516430-G-C
gnomAD v4:
14-102050093-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102050093G>C , CM000676.2:g.102050093G>C | GRCh38 |
| NC_000014.8:g.102516430G>C , CM000676.1:g.102516430G>C | GRCh37 |
| NC_000014.7:g.101586183G>C | NCBI36 |
| NG_008777.1:g.90566G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*5166G>C | ENSP00000506816.1:n.*5166G>C | |
| ENST00000360184.10:c.13707G>C MANE Select | ENSP00000348965.4:p.Thr4569= | |
| ENST00000553701.1:n.346+352C>G | ||
| ENST00000555062.2:n.911G>C | ||
| ENST00000556229.2:n.1870G>C | ||
| ENST00000557242.1:n.328+2434C>G | ||
| ENST00000643437.1:n.4431G>C | ||
| ENST00000643591.1:n.2270G>C | ||
| ENST00000643729.1:n.2429G>C | ||
| ENST00000643829.1:n.3663G>C | ||
| ENST00000644239.2:n.1843G>C | ||
| ENST00000644881.2:c.13707G>C | ENSP00000495022.2:p.Thr4569= | |
| ENST00000645039.2:c.*1558G>C | ENSP00000495220.2:n.*1558G>C | |
| ENST00000645085.1:n.1953G>C | ||
| ENST00000645149.2:c.13560G>C | ENSP00000495944.2:p.Thr4520= | |
| ENST00000645978.2:n.900G>C | ||
| ENST00000647143.1:n.2112G>C | ||
| ENST00000647204.2:n.3813G>C | ||
| ENST00000647366.1:n.7261G>C | ||
| ENST00000679720.1:c.13707G>C | ENSP00000505938.1:p.Thr4569= | |
| ENST00000679910.1:c.*4789G>C | ENSP00000506521.1:n.*4789G>C | |
| ENST00000680120.1:c.*466G>C | ENSP00000504863.1:n.*466G>C | |
| ENST00000680178.1:n.2167G>C | ||
| ENST00000680200.1:c.*2966G>C | ENSP00000506166.1:n.*2966G>C | |
| ENST00000680313.1:c.*453G>C | ENSP00000506208.1:n.*453G>C | |
| ENST00000680423.1:c.*5438G>C | ENSP00000505483.1:n.*5438G>C | |
| ENST00000680715.1:c.*997G>C | ENSP00000505332.1:n.*997G>C | |
| ENST00000681066.1:c.*1730G>C | ENSP00000506344.1:n.*1730G>C | |
| ENST00000681283.1:c.*2419G>C | ENSP00000505667.1:n.*2419G>C | |
| ENST00000681536.1:c.*6906G>C | ENSP00000505821.1:n.*6906G>C | |
| ENST00000681574.1:c.13707G>C | ENSP00000505523.1:p.Thr4569= | |
| ENST00000681822.1:c.*191G>C | ENSP00000505744.1:n.*191G>C | |
| ENST00000360184.8:c.13707G>C | ENSP00000348965.4:p.Thr4569= | |
| ENST00000555062.1:n.888G>C | ||
| NM_001376.4:c.13707G>C | NP_001367.2:p.Thr4569= | |
| NM_001376.5:c.13707G>C MANE Select | NP_001367.2:p.Thr4569= |