Linked Data
ClinVar Variation Id:
257253
dbSNP Id:
rs13712
ExAC:
14:75483812 T / C
gnomAD v2:
14-75483812-T-C
gnomAD v3:
14-75017109-T-C
gnomAD v4:
14-75017109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75017109T>C , CM000676.2:g.75017109T>C | GRCh38 |
| NC_000014.8:g.75483812T>C , CM000676.1:g.75483812T>C | GRCh37 |
| NC_000014.7:g.74553565T>C | NCBI36 |
| NG_008649.1:g.39424A>G , LRG_217:g.39424A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.4335A>G MANE Select | ENSP00000348020.2:p.Gln1445= | |
| ENST00000355774.6:c.4335A>G | ENSP00000348020.2:p.Gln1445= | |
| ENST00000380968.6:c.4263A>G | ENSP00000370355.3:p.Gln1421= | |
| ENST00000553713.5:c.1406A>G | ||
| ENST00000554697.5:c.348A>G | ENSP00000451055.1:p.Gln116= | |
| ENST00000555415.1:n.377A>G | ||
| ENST00000556257.5:c.3801A>G | ENSP00000451540.1:p.Gln1267= | |
| ENST00000556740.5:c.4335A>G | ENSP00000452316.1:p.Gln1445= | |
| NM_001040108.1:c.4335A>G , LRG_217t1:c.4335A>G | NP_001035197.1:p.Gln1445= | |
| NM_014381.2:c.4263A>G | NP_055196.2:p.Gln1421= | |
| XM_005267531.3:c.4335A>G | XP_005267588.1:p.Gln1445= | |
| XM_005267532.3:c.4230A>G | XP_005267589.1:p.Gln1410= | |
| XM_005267533.3:c.4158A>G | XP_005267590.1:p.Gln1386= | |
| XM_006720116.2:c.4335A>G | XP_006720179.1:p.Gln1445= | |
| XM_011536646.1:c.4164A>G | XP_011534948.1:p.Gln1388= | |
| XR_245681.2:n.4551A>G | ||
| XM_005267532.5:c.4230A>G | XP_005267589.1:p.Gln1410= | |
| XM_005267533.5:c.4158A>G | XP_005267590.1:p.Gln1386= | |
| XM_006720116.4:c.4335A>G | XP_006720179.1:p.Gln1445= | |
| XM_011536646.3:c.4164A>G | XP_011534948.1:p.Gln1388= | |
| XM_017021219.2:c.4263A>G | XP_016876708.1:p.Gln1421= | |
| XM_024449538.1:c.4230A>G | XP_024305306.1:p.Gln1410= | |
| XM_024449539.1:c.783A>G | XP_024305307.1:p.Gln261= | |
| XR_001750225.2:n.4426A>G | ||
| XR_001750227.2:n.4338A>G | ||
| XR_001750228.2:n.4511A>G | ||
| XR_001750229.2:n.4406A>G | ||
| XR_001750230.2:n.4343A>G | ||
| XR_002957544.1:n.4507A>G | ||
| XR_245681.4:n.4498A>G | ||
| NM_001040108.2:c.4335A>G MANE Select | NP_001035197.1:p.Gln1445= | |
| NM_014381.3:c.4263A>G | NP_055196.2:p.Gln1421= |