Linked Data
ClinVar Variation Id:
246279
dbSNP Id:
rs547205132
ExAC:
14:102514219 G / A
gnomAD v2:
14-102514219-G-A
gnomAD v3:
14-102047882-G-A
gnomAD v4:
14-102047882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102047882G>A , CM000676.2:g.102047882G>A | GRCh38 |
| NC_000014.8:g.102514219G>A , CM000676.1:g.102514219G>A | GRCh37 |
| NC_000014.7:g.101583972G>A | NCBI36 |
| NG_008777.1:g.88355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4531G>A | ENSP00000506816.1:n.*4531G>A | |
| ENST00000360184.10:c.13072G>A MANE Select | ENSP00000348965.4:p.Ala4358Thr | |
| ENST00000553701.1:n.346+2563C>T | ||
| ENST00000555062.2:n.145G>A | ||
| ENST00000556229.2:n.465G>A | ||
| ENST00000557242.1:n.328+4645C>T | ||
| ENST00000643437.1:n.3026G>A | ||
| ENST00000643591.1:n.865G>A | ||
| ENST00000643729.1:n.218G>A | ||
| ENST00000643829.1:n.3028G>A | ||
| ENST00000644239.2:n.1208G>A | ||
| ENST00000644794.1:n.3191G>A | ||
| ENST00000644881.2:c.13072G>A | ENSP00000495022.2:p.Ala4358Thr | |
| ENST00000645039.2:c.*923G>A | ENSP00000495220.2:n.*923G>A | |
| ENST00000645085.1:n.1318G>A | ||
| ENST00000645149.2:c.12925G>A | ENSP00000495944.2:p.Ala4309Thr | |
| ENST00000647143.1:n.220G>A | ||
| ENST00000647204.2:n.2408G>A | ||
| ENST00000647366.1:n.6626G>A | ||
| ENST00000679720.1:c.13072G>A | ENSP00000505938.1:p.Ala4358Thr | |
| ENST00000679910.1:c.*4154G>A | ENSP00000506521.1:n.*4154G>A | |
| ENST00000680120.1:c.13072G>A | ENSP00000504863.1:p.Ala4358Thr | |
| ENST00000680178.1:n.144G>A | ||
| ENST00000680200.1:c.*2331G>A | ENSP00000506166.1:n.*2331G>A | |
| ENST00000680313.1:c.13072G>A | ENSP00000506208.1:p.Ala4358Thr | |
| ENST00000680423.1:c.*4803G>A | ENSP00000505483.1:n.*4803G>A | |
| ENST00000680715.1:c.*362G>A | ENSP00000505332.1:n.*362G>A | |
| ENST00000681066.1:c.*1095G>A | ENSP00000506344.1:n.*1095G>A | |
| ENST00000681283.1:c.*1784G>A | ENSP00000505667.1:n.*1784G>A | |
| ENST00000681536.1:c.*6271G>A | ENSP00000505821.1:n.*6271G>A | |
| ENST00000681574.1:c.13072G>A | ENSP00000505523.1:p.Ala4358Thr | |
| ENST00000681822.1:c.13072G>A | ENSP00000505744.1:p.Ala4358Thr | |
| ENST00000360184.8:c.13072G>A | ENSP00000348965.4:p.Ala4358Thr | |
| ENST00000555062.1:n.122G>A | ||
| ENST00000556229.1:n.222G>A | ||
| NM_001376.4:c.13072G>A | NP_001367.2:p.Ala4358Thr | |
| NM_001376.5:c.13072G>A MANE Select | NP_001367.2:p.Ala4358Thr |