Linked Data
ClinVar Variation Id:
312634
dbSNP Id:
rs17541088
ExAC:
14:102476436 G / T
gnomAD v2:
14-102476436-G-T
gnomAD v3:
14-102010099-G-T
gnomAD v4:
14-102010099-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102010099G>T , CM000676.2:g.102010099G>T | GRCh38 |
| NC_000014.8:g.102476436G>T , CM000676.1:g.102476436G>T | GRCh37 |
| NC_000014.7:g.101546189G>T | NCBI36 |
| NG_008777.1:g.50572G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684561.1:c.6221+13G>T | ENSP00000506816.1:n.6221+13G>T | |
| ENST00000360184.10:c.6221+13G>T MANE Select | ENSP00000348965.4:n.6221+13G>T | |
| ENST00000643508.2:c.6221+13G>T | ENSP00000495528.2:n.6221+13G>T | |
| ENST00000643565.1:n.767+13G>T | ||
| ENST00000643684.1:n.6418+13G>T | ||
| ENST00000643764.1:n.333+13G>T | ||
| ENST00000644206.1:n.705+13G>T | ||
| ENST00000644881.2:c.6221+13G>T | ENSP00000495022.2:n.6221+13G>T | |
| ENST00000645039.2:c.6221+13G>T | ENSP00000495220.2:n.6221+13G>T | |
| ENST00000645114.2:c.6221+13G>T | ENSP00000495884.2:n.6221+13G>T | |
| ENST00000645149.2:c.6221+13G>T | ENSP00000495944.2:n.6221+13G>T | |
| ENST00000679486.1:c.6221+13G>T | ENSP00000506688.1:n.6221+13G>T | |
| ENST00000679629.1:c.6221+13G>T | ENSP00000505589.1:n.6221+13G>T | |
| ENST00000679720.1:c.6221+13G>T | ENSP00000505938.1:n.6221+13G>T | |
| ENST00000679910.1:c.6221+13G>T | ENSP00000506521.1:n.6221+13G>T | |
| ENST00000680120.1:c.6221+13G>T | ENSP00000504863.1:n.6221+13G>T | |
| ENST00000680137.1:c.6221+13G>T | ENSP00000505294.1:n.6221+13G>T | |
| ENST00000680200.1:c.6221+13G>T | ENSP00000506166.1:n.6221+13G>T | |
| ENST00000680313.1:c.6221+13G>T | ENSP00000506208.1:n.6221+13G>T | |
| ENST00000680423.1:c.6221+13G>T | ENSP00000505483.1:n.6221+13G>T | |
| ENST00000680715.1:c.6221+13G>T | ENSP00000505332.1:n.6221+13G>T | |
| ENST00000680808.1:c.6221+13G>T | ENSP00000506446.1:n.6221+13G>T | |
| ENST00000680874.1:c.6221+13G>T | ENSP00000504911.1:n.6221+13G>T | |
| ENST00000681010.1:c.6221+13G>T | ENSP00000505201.1:n.6221+13G>T | |
| ENST00000681066.1:c.6221+13G>T | ENSP00000506344.1:n.6221+13G>T | |
| ENST00000681123.1:c.6221+13G>T | ENSP00000506124.1:n.6221+13G>T | |
| ENST00000681283.1:c.6221+13G>T | ENSP00000505667.1:n.6221+13G>T | |
| ENST00000681311.1:c.6221+13G>T | ENSP00000505519.1:n.6221+13G>T | |
| ENST00000681536.1:c.6221+13G>T | ENSP00000505821.1:n.6221+13G>T | |
| ENST00000681574.1:c.6221+13G>T | ENSP00000505523.1:n.6221+13G>T | |
| ENST00000681822.1:c.6221+13G>T | ENSP00000505744.1:n.6221+13G>T | |
| ENST00000681859.1:c.6221+13G>T | ENSP00000505467.1:n.6221+13G>T | |
| ENST00000360184.8:c.6221+13G>T | ENSP00000348965.4:n.6221+13G>T | |
| NM_001376.4:c.6221+13G>T | NP_001367.2:n.6221+13G>T | |
| NM_001376.5:c.6221+13G>T MANE Select | NP_001367.2:n.6221+13G>T |