Linked Data
ClinVar Variation Id:
245962
dbSNP Id:
rs879254018
gnomAD v3:
14-102043950-G-A
gnomAD v4:
14-102043950-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102043950G>A , CM000676.2:g.102043950G>A | GRCh38 |
| NC_000014.8:g.102510287G>A , CM000676.1:g.102510287G>A | GRCh37 |
| NC_000014.7:g.101580040G>A | NCBI36 |
| NG_008777.1:g.84423G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4048G>A | ENSP00000506816.1:n.*4048G>A | |
| ENST00000360184.10:c.12589G>A MANE Select | ENSP00000348965.4:p.Ala4197Thr | |
| ENST00000553701.1:n.346+6495C>T | ||
| ENST00000557242.1:n.329-7181C>T | ||
| ENST00000557551.1:n.111+343C>T | ||
| ENST00000642716.1:n.626G>A | ||
| ENST00000643437.1:n.2543G>A | ||
| ENST00000643591.1:n.382G>A | ||
| ENST00000643829.1:n.2545G>A | ||
| ENST00000644239.2:n.725G>A | ||
| ENST00000644794.1:n.2708G>A | ||
| ENST00000644881.2:c.12589G>A | ENSP00000495022.2:p.Ala4197Thr | |
| ENST00000645039.2:c.*440G>A | ENSP00000495220.2:n.*440G>A | |
| ENST00000645085.1:n.835G>A | ||
| ENST00000645149.2:c.12442G>A | ENSP00000495944.2:p.Ala4148Thr | |
| ENST00000646418.1:n.818G>A | ||
| ENST00000647204.2:n.1925G>A | ||
| ENST00000647366.1:n.6143G>A | ||
| ENST00000679486.1:c.*577G>A | ENSP00000506688.1:n.*577G>A | |
| ENST00000679720.1:c.12589G>A | ENSP00000505938.1:p.Ala4197Thr | |
| ENST00000679910.1:c.*3671G>A | ENSP00000506521.1:n.*3671G>A | |
| ENST00000680120.1:c.12589G>A | ENSP00000504863.1:p.Ala4197Thr | |
| ENST00000680200.1:c.*1848G>A | ENSP00000506166.1:n.*1848G>A | |
| ENST00000680313.1:c.12589G>A | ENSP00000506208.1:p.Ala4197Thr | |
| ENST00000680423.1:c.*4320G>A | ENSP00000505483.1:n.*4320G>A | |
| ENST00000680715.1:c.12589G>A | ENSP00000505332.1:p.Ala4197Thr | |
| ENST00000681010.1:c.*272G>A | ENSP00000505201.1:n.*272G>A | |
| ENST00000681066.1:c.*612G>A | ENSP00000506344.1:n.*612G>A | |
| ENST00000681283.1:c.*1301G>A | ENSP00000505667.1:n.*1301G>A | |
| ENST00000681536.1:c.*5788G>A | ENSP00000505821.1:n.*5788G>A | |
| ENST00000681574.1:c.12589G>A | ENSP00000505523.1:p.Ala4197Thr | |
| ENST00000681822.1:c.12589G>A | ENSP00000505744.1:p.Ala4197Thr | |
| ENST00000360184.8:c.12589G>A | ENSP00000348965.4:p.Ala4197Thr | |
| NM_001376.4:c.12589G>A | NP_001367.2:p.Ala4197Thr | |
| NM_001376.5:c.12589G>A MANE Select | NP_001367.2:p.Ala4197Thr |