Linked Data
ClinVar Variation Id:
312661
dbSNP Id:
rs536121075
ExAC:
14:102514299 G / A
gnomAD v2:
14-102514299-G-A
gnomAD v3:
14-102047962-G-A
gnomAD v4:
14-102047962-G-A
COSMIC:
COSM1368328
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102047962G>A , CM000676.2:g.102047962G>A | GRCh38 |
| NC_000014.8:g.102514299G>A , CM000676.1:g.102514299G>A | GRCh37 |
| NC_000014.7:g.101584052G>A | NCBI36 |
| NG_008777.1:g.88435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4611G>A | ENSP00000506816.1:n.*4611G>A | |
| ENST00000360184.10:c.13152G>A MANE Select | ENSP00000348965.4:p.Ala4384= | |
| ENST00000553701.1:n.346+2483C>T | ||
| ENST00000555062.2:n.225G>A | ||
| ENST00000556229.2:n.545G>A | ||
| ENST00000557242.1:n.328+4565C>T | ||
| ENST00000643437.1:n.3106G>A | ||
| ENST00000643591.1:n.945G>A | ||
| ENST00000643729.1:n.298G>A | ||
| ENST00000643829.1:n.3108G>A | ||
| ENST00000644239.2:n.1288G>A | ||
| ENST00000644794.1:n.3271G>A | ||
| ENST00000644881.2:c.13152G>A | ENSP00000495022.2:p.Ala4384= | |
| ENST00000645039.2:c.*1003G>A | ENSP00000495220.2:n.*1003G>A | |
| ENST00000645085.1:n.1398G>A | ||
| ENST00000645149.2:c.13005G>A | ENSP00000495944.2:p.Ala4335= | |
| ENST00000647143.1:n.300G>A | ||
| ENST00000647204.2:n.2488G>A | ||
| ENST00000647366.1:n.6706G>A | ||
| ENST00000679720.1:c.13152G>A | ENSP00000505938.1:p.Ala4384= | |
| ENST00000679910.1:c.*4234G>A | ENSP00000506521.1:n.*4234G>A | |
| ENST00000680120.1:c.13152G>A | ENSP00000504863.1:p.Ala4384= | |
| ENST00000680178.1:n.224G>A | ||
| ENST00000680200.1:c.*2411G>A | ENSP00000506166.1:n.*2411G>A | |
| ENST00000680313.1:c.13152G>A | ENSP00000506208.1:p.Ala4384= | |
| ENST00000680423.1:c.*4883G>A | ENSP00000505483.1:n.*4883G>A | |
| ENST00000680715.1:c.*442G>A | ENSP00000505332.1:n.*442G>A | |
| ENST00000681066.1:c.*1175G>A | ENSP00000506344.1:n.*1175G>A | |
| ENST00000681283.1:c.*1864G>A | ENSP00000505667.1:n.*1864G>A | |
| ENST00000681536.1:c.*6351G>A | ENSP00000505821.1:n.*6351G>A | |
| ENST00000681574.1:c.13152G>A | ENSP00000505523.1:p.Ala4384= | |
| ENST00000681822.1:c.13152G>A | ENSP00000505744.1:p.Ala4384= | |
| ENST00000360184.8:c.13152G>A | ENSP00000348965.4:p.Ala4384= | |
| ENST00000555062.1:n.202G>A | ||
| ENST00000556229.1:n.302G>A | ||
| NM_001376.4:c.13152G>A | NP_001367.2:p.Ala4384= | |
| NM_001376.5:c.13152G>A MANE Select | NP_001367.2:p.Ala4384= |