Linked Data
ClinVar Variation Id:
539761
dbSNP Id:
rs199692678
gnomAD v2:
14-102515818-G-A
gnomAD v3:
14-102049481-G-A
gnomAD v4:
14-102049481-G-A
COSMIC:
COSM380382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102049481G>A , CM000676.2:g.102049481G>A | GRCh38 |
| NC_000014.8:g.102515818G>A , CM000676.1:g.102515818G>A | GRCh37 |
| NC_000014.7:g.101585571G>A | NCBI36 |
| NG_008777.1:g.89954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*4873G>A | ENSP00000506816.1:n.*4873G>A | |
| ENST00000360184.10:c.13414G>A MANE Select | ENSP00000348965.4:p.Gly4472Ser | |
| ENST00000553701.1:n.346+964C>T | ||
| ENST00000555062.2:n.487G>A | ||
| ENST00000556229.2:n.1577G>A | ||
| ENST00000557242.1:n.328+3046C>T | ||
| ENST00000643437.1:n.4138G>A | ||
| ENST00000643591.1:n.1977G>A | ||
| ENST00000643729.1:n.1817G>A | ||
| ENST00000643829.1:n.3370G>A | ||
| ENST00000644239.2:n.1550G>A | ||
| ENST00000644794.1:n.4790G>A | ||
| ENST00000644881.2:c.13414G>A | ENSP00000495022.2:p.Gly4472Ser | |
| ENST00000645039.2:c.*1265G>A | ENSP00000495220.2:n.*1265G>A | |
| ENST00000645085.1:n.1660G>A | ||
| ENST00000645149.2:c.13267G>A | ENSP00000495944.2:p.Gly4423Ser | |
| ENST00000645978.2:n.476G>A | ||
| ENST00000647143.1:n.1819G>A | ||
| ENST00000647204.2:n.3520G>A | ||
| ENST00000647366.1:n.6968G>A | ||
| ENST00000679720.1:c.13414G>A | ENSP00000505938.1:p.Gly4472Ser | |
| ENST00000679910.1:c.*4496G>A | ENSP00000506521.1:n.*4496G>A | |
| ENST00000680120.1:c.*173G>A | ENSP00000504863.1:n.*173G>A | |
| ENST00000680178.1:n.1743G>A | ||
| ENST00000680200.1:c.*2673G>A | ENSP00000506166.1:n.*2673G>A | |
| ENST00000680313.1:c.*160G>A | ENSP00000506208.1:n.*160G>A | |
| ENST00000680423.1:c.*5145G>A | ENSP00000505483.1:n.*5145G>A | |
| ENST00000680715.1:c.*704G>A | ENSP00000505332.1:n.*704G>A | |
| ENST00000681066.1:c.*1437G>A | ENSP00000506344.1:n.*1437G>A | |
| ENST00000681283.1:c.*2126G>A | ENSP00000505667.1:n.*2126G>A | |
| ENST00000681536.1:c.*6613G>A | ENSP00000505821.1:n.*6613G>A | |
| ENST00000681574.1:c.13414G>A | ENSP00000505523.1:p.Gly4472Ser | |
| ENST00000681822.1:c.13414G>A | ENSP00000505744.1:p.Gly4472Ser | |
| ENST00000360184.8:c.13414G>A | ENSP00000348965.4:p.Gly4472Ser | |
| ENST00000555062.1:n.464G>A | ||
| NM_001376.4:c.13414G>A | NP_001367.2:p.Gly4472Ser | |
| NM_001376.5:c.13414G>A MANE Select | NP_001367.2:p.Gly4472Ser |