Linked Data
ClinVar Variation Id:
210884
dbSNP Id:
rs146220233
ExAC:
14:102486388 A / G
gnomAD v2:
14-102486388-A-G
gnomAD v3:
14-102020051-A-G
gnomAD v4:
14-102020051-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102020051A>G , CM000676.2:g.102020051A>G | GRCh38 |
| NC_000014.8:g.102486388A>G , CM000676.1:g.102486388A>G | GRCh37 |
| NC_000014.7:g.101556141A>G | NCBI36 |
| NG_008777.1:g.60524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.8502A>G | ENSP00000506816.1:p.Gln2834= | |
| ENST00000360184.10:c.8502A>G MANE Select | ENSP00000348965.4:p.Gln2834= | |
| ENST00000643279.1:n.1780A>G | ||
| ENST00000643508.2:c.8502A>G | ENSP00000495528.2:p.Gln2834= | |
| ENST00000644881.2:c.8502A>G | ENSP00000495022.2:p.Gln2834= | |
| ENST00000645039.2:c.8502A>G | ENSP00000495220.2:p.Gln2834= | |
| ENST00000645149.2:c.8502A>G | ENSP00000495944.2:p.Gln2834= | |
| ENST00000647366.1:n.2056A>G | ||
| ENST00000679486.1:c.8502A>G | ENSP00000506688.1:p.Gln2834= | |
| ENST00000679629.1:c.8502A>G | ENSP00000505589.1:p.Gln2834= | |
| ENST00000679720.1:c.8502A>G | ENSP00000505938.1:p.Gln2834= | |
| ENST00000679910.1:c.8502A>G | ENSP00000506521.1:p.Gln2834= | |
| ENST00000680120.1:c.8502A>G | ENSP00000504863.1:p.Gln2834= | |
| ENST00000680137.1:c.8502A>G | ENSP00000505294.1:p.Gln2834= | |
| ENST00000680200.1:c.8502A>G | ENSP00000506166.1:p.Gln2834= | |
| ENST00000680313.1:c.8502A>G | ENSP00000506208.1:p.Gln2834= | |
| ENST00000680423.1:c.*233A>G | ENSP00000505483.1:n.*233A>G | |
| ENST00000680715.1:c.8502A>G | ENSP00000505332.1:p.Gln2834= | |
| ENST00000680808.1:c.8502A>G | ENSP00000506446.1:p.Gln2834= | |
| ENST00000680874.1:c.8502A>G | ENSP00000504911.1:p.Gln2834= | |
| ENST00000681010.1:c.8502A>G | ENSP00000505201.1:p.Gln2834= | |
| ENST00000681066.1:c.8502A>G | ENSP00000506344.1:p.Gln2834= | |
| ENST00000681123.1:c.8502A>G | ENSP00000506124.1:p.Gln2834= | |
| ENST00000681283.1:c.8502A>G | ENSP00000505667.1:p.Gln2834= | |
| ENST00000681311.1:c.8502A>G | ENSP00000505519.1:p.Gln2834= | |
| ENST00000681536.1:c.*1701A>G | ENSP00000505821.1:n.*1701A>G | |
| ENST00000681574.1:c.8502A>G | ENSP00000505523.1:p.Gln2834= | |
| ENST00000681822.1:c.8502A>G | ENSP00000505744.1:p.Gln2834= | |
| ENST00000360184.8:c.8502A>G | ENSP00000348965.4:p.Gln2834= | |
| ENST00000555204.1:n.18A>G | ||
| NM_001376.4:c.8502A>G | NP_001367.2:p.Gln2834= | |
| NM_001376.5:c.8502A>G MANE Select | NP_001367.2:p.Gln2834= |