Linked Data
ClinVar Variation Id:
2782468
ClinVar RCV Id:
RCV003755126
gnomAD v4:
1-3825797-C-T
MyVariant Identifiers:
chr1:g.3742361C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3825797C>T , CM000663.2:g.3825797C>T | GRCh38 |
| NC_000001.10:g.3742361C>T , CM000663.1:g.3742361C>T | GRCh37 |
| NC_000001.9:g.3732221C>T | NCBI36 |
| NG_046726.1:g.36437G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378230.8:c.2325G>A MANE Select | ENSP00000367476.3:p.Lys775= | |
| ENST00000428079.6:c.2325G>A | ENSP00000394989.2:p.Lys775= | |
| ENST00000438539.6:n.1372G>A | ||
| ENST00000461667.2:c.2325G>A | ENSP00000463605.2:p.Lys775= | |
| ENST00000674544.1:c.2151G>A | ENSP00000502641.1:p.Lys717= | |
| ENST00000674558.1:c.2325G>A | ENSP00000501829.1:p.Lys775= | |
| ENST00000674623.1:c.2325G>A | ENSP00000501733.1:p.Lys775= | |
| ENST00000674879.1:n.3261G>A | ||
| ENST00000674985.1:c.*1183G>A | ENSP00000502482.1:n.*1183G>A | |
| ENST00000675108.1:c.*2461G>A | ENSP00000502131.1:n.*2461G>A | |
| ENST00000675200.1:c.*204G>A | ENSP00000502512.1:n.*204G>A | |
| ENST00000675334.1:n.2129G>A | ||
| ENST00000675375.1:c.2151G>A | ENSP00000502180.1:p.Lys717= | |
| ENST00000675666.1:c.2325G>A | ENSP00000502548.1:p.Lys775= | |
| ENST00000675677.1:c.2127G>A | ENSP00000501944.1:p.Lys709= | |
| ENST00000675750.1:c.*1654G>A | ENSP00000502342.1:n.*1654G>A | |
| ENST00000675966.1:n.3997G>A | ||
| ENST00000676009.1:c.*74G>A | ENSP00000502246.1:n.*74G>A | |
| ENST00000676052.1:c.2343G>A | ENSP00000502793.1:p.Lys781= | |
| ENST00000378230.7:c.2325G>A | ENSP00000367476.3:p.Lys775= | |
| ENST00000438539.5:c.215G>A | ||
| ENST00000461667.1:c.282G>A | ENSP00000463605.1:p.Lys94= | |
| NM_014704.3:c.2325G>A | NP_055519.1:p.Lys775= | |
| XM_005244815.3:c.2433G>A | XP_005244872.1:p.Lys811= | |
| XM_011542473.1:c.2451G>A | XP_011540775.1:p.Lys817= | |
| XM_011542474.1:c.2343G>A | XP_011540776.1:p.Lys781= | |
| XM_011542475.1:c.2277G>A | XP_011540777.1:p.Lys759= | |
| XM_011542476.1:c.2253G>A | XP_011540778.1:p.Lys751= | |
| XM_011542477.1:c.2079G>A | XP_011540779.1:p.Lys693= | |
| XM_005244815.4:c.2433G>A | XP_005244872.1:p.Lys811= | |
| XM_011542474.3:c.2343G>A | XP_011540776.1:p.Lys781= | |
| XM_017002918.2:c.2151G>A | XP_016858407.1:p.Lys717= | |
| XM_017002919.2:c.2127G>A | XP_016858408.1:p.Lys709= | |
| XM_024451101.1:c.2451G>A | XP_024306869.1:p.Lys817= | |
| XM_024451102.1:c.2277G>A | XP_024306870.1:p.Lys759= | |
| XM_024451103.1:c.2259G>A | XP_024306871.1:p.Lys753= | |
| XM_024451104.1:c.2253G>A | XP_024306872.1:p.Lys751= | |
| XM_024451106.1:c.2079G>A | XP_024306874.1:p.Lys693= | |
| NM_014704.4:c.2325G>A MANE Select | NP_055519.1:p.Lys775= |