Linked Data
ClinVar Variation Id:
1194638
ClinVar RCV Id:
RCV001557448
dbSNP Id:
rs1377225041
gnomAD v2:
1-103474048-T-C
gnomAD v3:
1-103008492-T-C
gnomAD v4:
1-103008492-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103008492T>C , CM000663.2:g.103008492T>C | GRCh38 |
| NC_000001.10:g.103474048T>C , CM000663.1:g.103474048T>C | GRCh37 |
| NC_000001.9:g.103246636T>C | NCBI36 |
| NG_008033.1:g.105005A>G | |
| NG_008033.2:g.105005A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1654A>G MANE Select | ENSP00000359114.3:p.Lys552Glu | |
| ENST00000461720.6:c.1807A>G | ENSP00000494909.1:p.Lys603Glu | |
| ENST00000644186.1:c.1654A>G | ENSP00000493821.1:p.Lys552Glu | |
| ENST00000645458.1:c.1654A>G | ENSP00000494179.1:p.Lys552Glu | |
| ENST00000647280.1:c.1654A>G | ENSP00000494583.1:p.Lys552Glu | |
| ENST00000353414.8:c.1537A>G | ENSP00000302551.6:p.Lys513Glu | |
| ENST00000358392.6:c.1690A>G | ENSP00000351163.2:p.Lys564Glu | |
| ENST00000370096.7:c.1654A>G | ENSP00000359114.3:p.Lys552Glu | |
| ENST00000427239.5:c.1690A>G | ENSP00000408640.1:p.Lys564Glu | |
| ENST00000461720.5:n.2A>G | ||
| ENST00000512756.5:c.1306A>G | ENSP00000426533.1:p.Lys436Glu | |
| ENST00000635193.1:c.972A>G | ||
| NM_001190709.1:c.1537A>G | NP_001177638.1:p.Lys513Glu | |
| NM_001854.3:c.1654A>G | NP_001845.3:p.Lys552Glu | |
| NM_080629.2:c.1690A>G | NP_542196.2:p.Lys564Glu | |
| NM_080630.3:c.1306A>G | NP_542197.3:p.Lys436Glu | |
| XM_011540719.1:c.1654A>G | XP_011539021.1:p.Lys552Glu | |
| XM_011540720.1:c.-85+184A>G | XP_011539022.1:n.-85+184A>G | |
| XM_011540721.1:c.-775A>G | XP_011539023.1:n.-775A>G | |
| XR_946545.1:n.2052A>G | ||
| NR_134980.1:n.1972A>G | ||
| XM_017000334.1:c.1807A>G | XP_016855823.1:p.Lys603Glu | |
| XM_017000335.1:c.1801A>G | XP_016855824.1:p.Lys601Glu | |
| XM_017000336.1:c.1807A>G | XP_016855825.1:p.Lys603Glu | |
| XM_017000337.1:c.205A>G | XP_016855826.1:p.Lys69Glu | |
| NM_001854.4:c.1654A>G MANE Select | NP_001845.3:p.Lys552Glu | |
| NM_080630.4:c.1306A>G | NP_542197.3:p.Lys436Glu | |
| NR_134980.2:n.1998A>G | ||
| NM_001190709.2:c.1537A>G | NP_001177638.1:p.Lys513Glu | |
| NM_080629.3:c.1690A>G | NP_542196.2:p.Lys564Glu |