Linked Data
ClinVar Variation Id:
210864
dbSNP Id:
rs774840535
ExAC:
14:102506603 C / A
gnomAD v2:
14-102506603-C-A
gnomAD v4:
14-102040266-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102040266C>A , CM000676.2:g.102040266C>A | GRCh38 |
| NC_000014.8:g.102506603C>A , CM000676.1:g.102506603C>A | GRCh37 |
| NC_000014.7:g.101576356C>A | NCBI36 |
| NG_008777.1:g.80739C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3180C>A | ENSP00000506816.1:n.*3180C>A | |
| ENST00000360184.10:c.11721C>A MANE Select | ENSP00000348965.4:p.His3907Gln | |
| ENST00000553701.1:n.347-3497G>T | ||
| ENST00000556139.2:n.273C>A | ||
| ENST00000557242.1:n.329-3497G>T | ||
| ENST00000557551.1:n.112-3497G>T | ||
| ENST00000643437.1:n.1675C>A | ||
| ENST00000643829.1:n.1550C>A | ||
| ENST00000644794.1:n.1840C>A | ||
| ENST00000644881.2:c.11721C>A | ENSP00000495022.2:p.His3907Gln | |
| ENST00000645039.2:c.11690+534C>A | ENSP00000495220.2:n.11690+534C>A | |
| ENST00000645085.1:n.187+534C>A | ||
| ENST00000645149.2:c.11574C>A | ENSP00000495944.2:p.His3858Gln | |
| ENST00000645697.1:n.2384C>A | ||
| ENST00000647204.2:n.962C>A | ||
| ENST00000647366.1:n.5275C>A | ||
| ENST00000679486.1:c.11721C>A | ENSP00000506688.1:p.His3907Gln | |
| ENST00000679629.1:c.11691-332C>A | ENSP00000505589.1:n.11691-332C>A | |
| ENST00000679720.1:c.11721C>A | ENSP00000505938.1:p.His3907Gln | |
| ENST00000679910.1:c.*2803C>A | ENSP00000506521.1:n.*2803C>A | |
| ENST00000680120.1:c.11721C>A | ENSP00000504863.1:p.His3907Gln | |
| ENST00000680200.1:c.*980C>A | ENSP00000506166.1:n.*980C>A | |
| ENST00000680313.1:c.11721C>A | ENSP00000506208.1:p.His3907Gln | |
| ENST00000680423.1:c.*3452C>A | ENSP00000505483.1:n.*3452C>A | |
| ENST00000680715.1:c.11721C>A | ENSP00000505332.1:p.His3907Gln | |
| ENST00000681010.1:c.11721C>A | ENSP00000505201.1:p.His3907Gln | |
| ENST00000681066.1:c.11721C>A | ENSP00000506344.1:p.His3907Gln | |
| ENST00000681123.1:c.11721C>A | ENSP00000506124.1:p.His3907Gln | |
| ENST00000681283.1:c.*433C>A | ENSP00000505667.1:n.*433C>A | |
| ENST00000681536.1:c.*4920C>A | ENSP00000505821.1:n.*4920C>A | |
| ENST00000681574.1:c.11721C>A | ENSP00000505523.1:p.His3907Gln | |
| ENST00000681822.1:c.11721C>A | ENSP00000505744.1:p.His3907Gln | |
| ENST00000360184.8:c.11721C>A | ENSP00000348965.4:p.His3907Gln | |
| ENST00000556139.1:n.273C>A | ||
| NM_001376.4:c.11721C>A | NP_001367.2:p.His3907Gln | |
| NM_001376.5:c.11721C>A MANE Select | NP_001367.2:p.His3907Gln |