Linked Data
ClinVar Variation Id:
434833
dbSNP Id:
rs146617729
ExAC:
1:36932047 C / T
gnomAD v2:
1-36932047-C-T
gnomAD v3:
1-36466446-C-T
gnomAD v4:
1-36466446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36466446C>T , CM000663.2:g.36466446C>T | GRCh38 |
| NC_000001.10:g.36932047C>T , CM000663.1:g.36932047C>T | GRCh37 |
| NC_000001.9:g.36704634C>T | NCBI36 |
| NG_016270.1:g.21463G>A , LRG_144:g.21463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464465.7:c.2320G>A | ENSP00000435218.2:p.Glu774Lys | |
| ENST00000487540.7:c.*716G>A | ENSP00000514169.2:n.*716G>A | |
| ENST00000699089.1:n.3402G>A | ||
| ENST00000699090.1:c.2026G>A | ENSP00000514168.1:p.Glu676Lys | |
| ENST00000373106.6:c.2422G>A MANE Select | ENSP00000362198.2:p.Glu808Lys | |
| ENST00000331941.6:c.2247+175G>A | ENSP00000332180.5:n.2247+175G>A | |
| ENST00000361632.8:c.2422G>A | ENSP00000355406.4:p.Glu808Lys | |
| ENST00000373103.5:c.2503G>A | ENSP00000362195.1:p.Glu835Lys | |
| ENST00000373104.5:c.2247+175G>A | ENSP00000362196.1:n.2247+175G>A | |
| ENST00000373106.5:c.2422G>A | ENSP00000362198.1:p.Glu808Lys | |
| ENST00000464465.6:c.1077G>A | ||
| ENST00000480825.6:n.5672G>A | ||
| ENST00000487540.6:n.1603G>A | ||
| NM_000760.3:c.2422G>A | NP_000751.1:p.Glu808Lys | |
| NM_156039.3:c.2503G>A , LRG_144t1:c.2503G>A | NP_724781.1:p.Glu835Lys | |
| NM_172313.2:c.2247+175G>A | NP_758519.1:n.2247+175G>A | |
| XM_005270493.1:c.2419G>A | XP_005270550.1:p.Glu807Lys | |
| XM_011540748.1:c.2503G>A | XP_011539050.1:p.Glu835Lys | |
| XM_011540749.1:c.2500G>A | XP_011539051.1:p.Glu834Lys | |
| XM_011540750.1:c.1831G>A | XP_011539052.1:p.Glu611Lys | |
| XM_011540748.3:c.2503G>A | XP_011539050.1:p.Glu835Lys | |
| XM_017000370.1:c.2503G>A | XP_016855859.1:p.Glu835Lys | |
| NM_000760.4:c.2422G>A MANE Select | NP_000751.1:p.Glu808Lys | |
| NM_172313.3:c.2247+175G>A | NP_758519.1:n.2247+175G>A |