Linked Data
ClinVar Variation Id:
1512511
ClinVar RCV Id:
RCV002045669
dbSNP Id:
rs1212995006
gnomAD v3:
10-100174261-T-C
gnomAD v4:
10-100174261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100174261T>C , CM000672.2:g.100174261T>C | GRCh38 |
| NC_000010.10:g.101934018T>C , CM000672.1:g.101934018T>C | GRCh37 |
| NC_000010.9:g.101924008T>C | NCBI36 |
| NG_052910.1:g.16797A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421367.7:c.451A>G MANE Select | ENSP00000410964.2:p.Lys151Glu | |
| ENST00000370408.2:c.451A>G | ENSP00000359436.2:p.Lys151Glu | |
| ENST00000407654.7:c.451A>G | ENSP00000384900.3:p.Lys151Glu | |
| ENST00000421367.6:c.451A>G | ENSP00000410964.2:p.Lys151Glu | |
| NM_001100626.1:c.451A>G | NP_001094096.1:p.Lys151Glu | |
| NM_006459.3:c.451A>G | NP_006450.2:p.Lys151Glu | |
| XM_005269442.2:c.451A>G | XP_005269499.1:p.Lys151Glu | |
| XM_011539170.1:c.199A>G | XP_011537472.1:p.Lys67Glu | |
| XM_011539171.1:c.451A>G | XP_011537473.1:p.Lys151Glu | |
| NM_001347856.1:c.199A>G | NP_001334785.1:p.Lys67Glu | |
| NM_001347857.1:c.451A>G | NP_001334786.1:p.Lys151Glu | |
| NM_001347858.1:c.-30A>G | NP_001334787.1:n.-30A>G | |
| NM_001347859.1:c.451A>G | NP_001334788.1:p.Lys151Glu | |
| NM_001347860.1:c.451A>G | NP_001334789.1:p.Lys151Glu | |
| NM_001347861.1:c.451A>G | NP_001334790.1:p.Lys151Glu | |
| NR_144755.1:n.476A>G | ||
| NR_144756.1:n.558A>G | ||
| NR_144757.1:n.449A>G | ||
| NR_144758.1:n.558A>G | ||
| NR_144759.1:n.536A>G | ||
| NR_144760.1:n.641A>G | ||
| NM_006459.4:c.451A>G MANE Select | NP_006450.2:p.Lys151Glu | |
| NM_001100626.2:c.451A>G | NP_001094096.1:p.Lys151Glu | |
| NM_001347856.2:c.199A>G | NP_001334785.1:p.Lys67Glu | |
| NM_001347857.2:c.451A>G | NP_001334786.1:p.Lys151Glu | |
| NM_001347858.2:c.-30A>G | NP_001334787.1:n.-30A>G | |
| NM_001347859.2:c.451A>G | NP_001334788.1:p.Lys151Glu | |
| NM_001347860.2:c.451A>G | NP_001334789.1:p.Lys151Glu | |
| NM_001347861.2:c.451A>G | NP_001334790.1:p.Lys151Glu | |
| NR_144755.2:n.448A>G | ||
| NR_144756.2:n.530A>G | ||
| NR_144757.2:n.421A>G | ||
| NR_144758.2:n.530A>G | ||
| NR_144759.2:n.588A>G | ||
| NR_144760.2:n.693A>G |