Linked Data
ClinVar Variation Id:
1410374
ClinVar RCV Id:
RCV001916414
dbSNP Id:
rs80356857
gnomAD v4:
17-43090944-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43090944C>A , CM000679.2:g.43090944C>A | GRCh38 |
| NC_000017.10:g.41242961C>A , CM000679.1:g.41242961C>A | GRCh37 |
| NC_000017.9:g.38496487C>A | NCBI36 |
| NG_005905.2:g.127040G>T , LRG_292:g.127040G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4185G>T | ENSP00000417241.2:p.Gln1395His | |
| ENST00000470026.6:c.4185G>T | ENSP00000419274.2:p.Gln1395His | |
| ENST00000473961.6:c.4059G>T | ENSP00000420201.2:p.Gln1353His | |
| ENST00000476777.6:c.4182G>T | ENSP00000417554.2:p.Gln1394His | |
| ENST00000477152.6:c.4107G>T | ENSP00000419988.2:p.Gln1369His | |
| ENST00000478531.6:c.873G>T | ENSP00000420412.2:p.Gln291His | |
| ENST00000489037.2:c.4107G>T | ENSP00000420781.2:p.Gln1369His | |
| ENST00000493919.6:c.735G>T | ENSP00000418819.2:p.Gln245His | |
| ENST00000494123.6:c.4185G>T | ENSP00000419103.2:p.Gln1395His | |
| ENST00000497488.2:c.3297G>T | ENSP00000418986.2:p.Gln1099His | |
| ENST00000618469.2:c.4185G>T | ENSP00000478114.2:p.Gln1395His | |
| ENST00000634433.2:c.4062G>T | ENSP00000489431.2:p.Gln1354His | |
| ENST00000644379.2:c.4185G>T | ENSP00000496570.2:p.Gln1395His | |
| ENST00000644555.2:c.735G>T | ENSP00000494614.2:p.Gln245His | |
| ENST00000652672.2:c.4044G>T | ENSP00000498906.2:p.Gln1348His | |
| ENST00000484087.6:c.753G>T | ENSP00000419481.2:p.Gln251His | |
| ENST00000700182.1:c.795G>T | ENSP00000514849.1:p.Gln265His | |
| ENST00000357654.9:c.4185G>T MANE Select | ENSP00000350283.3:p.Gln1395His | |
| ENST00000471181.7:c.4185G>T | ENSP00000418960.2:p.Gln1395His | |
| ENST00000644379.1:c.506G>T | ||
| ENST00000352993.7:c.759G>T | ENSP00000312236.5:p.Gln253His | |
| ENST00000357654.7:c.4185G>T | ENSP00000350283.3:p.Gln1395His | |
| ENST00000461221.5:c.*3968G>T | ENSP00000418548.1:n.*3968G>T | |
| ENST00000461574.1:c.479G>T | ||
| ENST00000468300.5:c.876G>T | ENSP00000417148.1:p.Gln292His | |
| ENST00000471181.6:c.4185G>T | ENSP00000418960.2:p.Gln1395His | |
| ENST00000478531.5:c.873G>T | ENSP00000420412.1:p.Gln291His | |
| ENST00000484087.5:c.498G>T | ENSP00000419481.1:p.Gln166His | |
| ENST00000487825.5:c.501G>T | ENSP00000418212.1:p.Gln167His | |
| ENST00000491747.6:c.876G>T | ENSP00000420705.2:p.Gln292His | |
| ENST00000493795.5:c.4044G>T | ENSP00000418775.1:p.Gln1348His | |
| ENST00000493919.5:c.735G>T | ENSP00000418819.1:p.Gln245His | |
| ENST00000586385.5:c.5-26993G>T | ENSP00000465818.1:n.5-26993G>T | |
| ENST00000591534.5:c.-43-16423G>T | ENSP00000467329.1:n.-43-16423G>T | |
| ENST00000591849.5:c.-99+34327G>T | ENSP00000465347.1:n.-99+34327G>T | |
| NM_007294.3:c.4185G>T , LRG_292t1:c.4185G>T | NP_009225.1:p.Gln1395His | |
| NM_007297.3:c.4044G>T | NP_009228.2:p.Gln1348His | |
| NM_007298.3:c.876G>T | NP_009229.2:p.Gln292His | |
| NM_007299.3:c.876G>T | NP_009230.2:p.Gln292His | |
| NM_007300.3:c.4185G>T | NP_009231.2:p.Gln1395His | |
| NR_027676.1:n.4321G>T | ||
| NM_007294.4:c.4185G>T MANE Select | NP_009225.1:p.Gln1395His | |
| NM_007297.4:c.4044G>T | NP_009228.2:p.Gln1348His | |
| NM_007299.4:c.876G>T | NP_009230.2:p.Gln292His | |
| NM_007300.4:c.4185G>T | NP_009231.2:p.Gln1395His | |
| NR_027676.2:n.4362G>T |