Linked Data
ClinVar Variation Id:
226427
ClinVar RCV Id:
RCV000211706
dbSNP Id:
rs876661322
PubMed:
PMID:24482476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100183802C>A , CM000672.2:g.100183802C>A | GRCh38 |
| NC_000010.10:g.101943559C>A , CM000672.1:g.101943559C>A | GRCh37 |
| NC_000010.9:g.101933549C>A | NCBI36 |
| NG_052910.1:g.7256G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421367.7:c.149G>T MANE Select | ENSP00000410964.2:p.Gly50Val | |
| ENST00000370408.2:c.149G>T | ENSP00000359436.2:p.Gly50Val | |
| ENST00000407654.7:c.149G>T | ENSP00000384900.3:p.Gly50Val | |
| ENST00000421367.6:c.149G>T | ENSP00000410964.2:p.Gly50Val | |
| NM_001100626.1:c.149G>T | NP_001094096.1:p.Gly50Val | |
| NM_006459.3:c.149G>T | NP_006450.2:p.Gly50Val | |
| XM_005269442.2:c.149G>T | XP_005269499.1:p.Gly50Val | |
| XM_011539170.1:c.-58+1712G>T | XP_011537472.1:n.-58+1712G>T | |
| XM_011539171.1:c.149G>T | XP_011537473.1:p.Gly50Val | |
| NM_001347856.1:c.-58+1712G>T | NP_001334785.1:n.-58+1712G>T | |
| NM_001347857.1:c.149G>T | NP_001334786.1:p.Gly50Val | |
| NM_001347858.1:c.-223G>T | NP_001334787.1:n.-223G>T | |
| NM_001347859.1:c.149G>T | NP_001334788.1:p.Gly50Val | |
| NM_001347860.1:c.149G>T | NP_001334789.1:p.Gly50Val | |
| NM_001347861.1:c.149G>T | NP_001334790.1:p.Gly50Val | |
| NR_144755.1:n.220+1712G>T | ||
| NR_144756.1:n.256G>T | ||
| NR_144757.1:n.256G>T | ||
| NR_144758.1:n.256G>T | ||
| NR_144759.1:n.234G>T | ||
| NR_144760.1:n.339G>T | ||
| NM_006459.4:c.149G>T MANE Select | NP_006450.2:p.Gly50Val | |
| NM_001100626.2:c.149G>T | NP_001094096.1:p.Gly50Val | |
| NM_001347856.2:c.-58+1712G>T | NP_001334785.1:n.-58+1712G>T | |
| NM_001347857.2:c.149G>T | NP_001334786.1:p.Gly50Val | |
| NM_001347858.2:c.-223G>T | NP_001334787.1:n.-223G>T | |
| NM_001347859.2:c.149G>T | NP_001334788.1:p.Gly50Val | |
| NM_001347860.2:c.149G>T | NP_001334789.1:p.Gly50Val | |
| NM_001347861.2:c.149G>T | NP_001334790.1:p.Gly50Val | |
| NR_144755.2:n.192+1712G>T | ||
| NR_144756.2:n.228G>T | ||
| NR_144757.2:n.228G>T | ||
| NR_144758.2:n.228G>T | ||
| NR_144759.2:n.286G>T | ||
| NR_144760.2:n.391G>T |