Linked Data
ClinVar Variation Id:
246032
dbSNP Id:
rs376608392
ExAC:
14:102515789 G / A
gnomAD v2:
14-102515789-G-A
gnomAD v3:
14-102049452-G-A
gnomAD v4:
14-102049452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102049452G>A , CM000676.2:g.102049452G>A | GRCh38 |
| NC_000014.8:g.102515789G>A , CM000676.1:g.102515789G>A | GRCh37 |
| NC_000014.7:g.101585542G>A | NCBI36 |
| NG_008777.1:g.89925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4844G>A | ENSP00000506816.1:n.*4844G>A | |
| ENST00000360184.10:c.13385G>A MANE Select | ENSP00000348965.4:p.Arg4462Gln | |
| ENST00000553701.1:n.346+993C>T | ||
| ENST00000555062.2:n.458G>A | ||
| ENST00000556229.2:n.1548G>A | ||
| ENST00000557242.1:n.328+3075C>T | ||
| ENST00000643437.1:n.4109G>A | ||
| ENST00000643591.1:n.1948G>A | ||
| ENST00000643729.1:n.1788G>A | ||
| ENST00000643829.1:n.3341G>A | ||
| ENST00000644239.2:n.1521G>A | ||
| ENST00000644794.1:n.4761G>A | ||
| ENST00000644881.2:c.13385G>A | ENSP00000495022.2:p.Arg4462Gln | |
| ENST00000645039.2:c.*1236G>A | ENSP00000495220.2:n.*1236G>A | |
| ENST00000645085.1:n.1631G>A | ||
| ENST00000645149.2:c.13238G>A | ENSP00000495944.2:p.Arg4413Gln | |
| ENST00000645978.2:n.447G>A | ||
| ENST00000647143.1:n.1790G>A | ||
| ENST00000647204.2:n.3491G>A | ||
| ENST00000647366.1:n.6939G>A | ||
| ENST00000679720.1:c.13385G>A | ENSP00000505938.1:p.Arg4462Gln | |
| ENST00000679910.1:c.*4467G>A | ENSP00000506521.1:n.*4467G>A | |
| ENST00000680120.1:c.*144G>A | ENSP00000504863.1:n.*144G>A | |
| ENST00000680178.1:n.1714G>A | ||
| ENST00000680200.1:c.*2644G>A | ENSP00000506166.1:n.*2644G>A | |
| ENST00000680313.1:c.*131G>A | ENSP00000506208.1:n.*131G>A | |
| ENST00000680423.1:c.*5116G>A | ENSP00000505483.1:n.*5116G>A | |
| ENST00000680715.1:c.*675G>A | ENSP00000505332.1:n.*675G>A | |
| ENST00000681066.1:c.*1408G>A | ENSP00000506344.1:n.*1408G>A | |
| ENST00000681283.1:c.*2097G>A | ENSP00000505667.1:n.*2097G>A | |
| ENST00000681536.1:c.*6584G>A | ENSP00000505821.1:n.*6584G>A | |
| ENST00000681574.1:c.13385G>A | ENSP00000505523.1:p.Arg4462Gln | |
| ENST00000681822.1:c.13385G>A | ENSP00000505744.1:p.Arg4462Gln | |
| ENST00000360184.8:c.13385G>A | ENSP00000348965.4:p.Arg4462Gln | |
| ENST00000555062.1:n.435G>A | ||
| NM_001376.4:c.13385G>A | NP_001367.2:p.Arg4462Gln | |
| NM_001376.5:c.13385G>A MANE Select | NP_001367.2:p.Arg4462Gln |