Linked Data
ClinVar Variation Id:
312658
dbSNP Id:
rs529010293
ExAC:
14:102510685 C / T
gnomAD v2:
14-102510685-C-T
gnomAD v3:
14-102044348-C-T
gnomAD v4:
14-102044348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102044348C>T , CM000676.2:g.102044348C>T | GRCh38 |
| NC_000014.8:g.102510685C>T , CM000676.1:g.102510685C>T | GRCh37 |
| NC_000014.7:g.101580438C>T | NCBI36 |
| NG_008777.1:g.84821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4218C>T | ENSP00000506816.1:n.*4218C>T | |
| ENST00000360184.10:c.12759C>T MANE Select | ENSP00000348965.4:p.Gly4253= | |
| ENST00000553701.1:n.346+6097G>A | ||
| ENST00000557242.1:n.329-7579G>A | ||
| ENST00000557551.1:n.56G>A | ||
| ENST00000642716.1:n.796C>T | ||
| ENST00000643437.1:n.2713C>T | ||
| ENST00000643591.1:n.552C>T | ||
| ENST00000643829.1:n.2715C>T | ||
| ENST00000644239.2:n.895C>T | ||
| ENST00000644794.1:n.2878C>T | ||
| ENST00000644881.2:c.12759C>T | ENSP00000495022.2:p.Gly4253= | |
| ENST00000645039.2:c.*610C>T | ENSP00000495220.2:n.*610C>T | |
| ENST00000645085.1:n.1005C>T | ||
| ENST00000645149.2:c.12612C>T | ENSP00000495944.2:p.Gly4204= | |
| ENST00000646418.1:n.1216C>T | ||
| ENST00000647204.2:n.2095C>T | ||
| ENST00000647366.1:n.6313C>T | ||
| ENST00000679486.1:c.*747C>T | ENSP00000506688.1:n.*747C>T | |
| ENST00000679720.1:c.12759C>T | ENSP00000505938.1:p.Gly4253= | |
| ENST00000679910.1:c.*3841C>T | ENSP00000506521.1:n.*3841C>T | |
| ENST00000680120.1:c.12759C>T | ENSP00000504863.1:p.Gly4253= | |
| ENST00000680200.1:c.*2018C>T | ENSP00000506166.1:n.*2018C>T | |
| ENST00000680313.1:c.12759C>T | ENSP00000506208.1:p.Gly4253= | |
| ENST00000680423.1:c.*4490C>T | ENSP00000505483.1:n.*4490C>T | |
| ENST00000680715.1:c.*49C>T | ENSP00000505332.1:n.*49C>T | |
| ENST00000681010.1:c.*442C>T | ENSP00000505201.1:n.*442C>T | |
| ENST00000681066.1:c.*782C>T | ENSP00000506344.1:n.*782C>T | |
| ENST00000681283.1:c.*1471C>T | ENSP00000505667.1:n.*1471C>T | |
| ENST00000681536.1:c.*5958C>T | ENSP00000505821.1:n.*5958C>T | |
| ENST00000681574.1:c.12759C>T | ENSP00000505523.1:p.Gly4253= | |
| ENST00000681822.1:c.12759C>T | ENSP00000505744.1:p.Gly4253= | |
| ENST00000360184.8:c.12759C>T | ENSP00000348965.4:p.Gly4253= | |
| NM_001376.4:c.12759C>T | NP_001367.2:p.Gly4253= | |
| NM_001376.5:c.12759C>T MANE Select | NP_001367.2:p.Gly4253= |