Linked Data
ClinVar Variation Id:
474157
ClinVar RCV Id:
RCV000542856
dbSNP Id:
rs141178720
ExAC:
1:989216 C / T
gnomAD v2:
1-989216-C-T
gnomAD v3:
1-1053836-C-T
gnomAD v4:
1-1053836-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1053836C>T , CM000663.2:g.1053836C>T | GRCh38 |
| NC_000001.10:g.989216C>T , CM000663.1:g.989216C>T | GRCh37 |
| NC_000001.9:g.979079C>T | NCBI36 |
| NG_016346.1:g.38714C>T , LRG_198:g.38714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.5735C>T MANE Select | ENSP00000368678.2:p.Ala1912Val | |
| ENST00000651234.1:c.5489C>T | ENSP00000499046.1:p.Ala1830Val | |
| ENST00000652369.1:c.5420C>T | ENSP00000498543.1:p.Ala1807Val | |
| ENST00000379370.6:c.5735C>T | ENSP00000368678.2:p.Ala1912Val | |
| ENST00000419249.1:c.699C>T | ||
| ENST00000461111.1:n.1851C>T | ||
| ENST00000620552.4:c.5390C>T | ENSP00000484607.1:p.Ala1797Val | |
| NM_001305275.1:c.5804C>T | NP_001292204.1:p.Ala1935Val | |
| NM_198576.3:c.5735C>T | NP_940978.2:p.Ala1912Val | |
| XM_005244749.2:c.5747C>T | XP_005244806.1:p.Ala1916Val | |
| XM_011541429.1:c.5747C>T | XP_011539731.1:p.Ala1916Val | |
| XM_011541430.1:c.4874C>T | XP_011539732.1:p.Ala1625Val | |
| XM_011541431.1:c.4013C>T | XP_011539733.1:p.Ala1338Val | |
| XR_946650.1:n.5814C>T | ||
| NM_001364727.1:c.5432C>T | NP_001351656.1:p.Ala1811Val | |
| XM_005244749.3:c.5747C>T | XP_005244806.1:p.Ala1916Val | |
| XM_011541429.2:c.5747C>T | XP_011539731.1:p.Ala1916Val | |
| XR_946650.2:n.5818C>T | ||
| NM_001305275.2:c.5804C>T | NP_001292204.1:p.Ala1935Val | |
| NM_198576.4:c.5735C>T MANE Select | NP_940978.2:p.Ala1912Val | |
| NM_001364727.2:c.5432C>T | NP_001351656.1:p.Ala1811Val |