Linked Data
ClinVar Variation Id:
428598
ClinVar RCV Id:
RCV000492063
dbSNP Id:
rs150539474
ExAC:
1:8386016 C / T
gnomAD v2:
1-8386016-C-T
gnomAD v3:
1-8325956-C-T
gnomAD v4:
1-8325956-C-T
PubMed:
PMID:28434495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8325956C>T , CM000663.2:g.8325956C>T | GRCh38 |
| NC_000001.10:g.8386016C>T , CM000663.1:g.8386016C>T | GRCh37 |
| NC_000001.9:g.8308603C>T | NCBI36 |
| NG_034025.1:g.12872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471889.7:c.629C>T MANE Select | ENSP00000418096.3:p.Ala210Val | |
| ENST00000289877.8:c.629C>T | ENSP00000289877.8:p.Ala210Val | |
| ENST00000471889.5:c.731C>T | ENSP00000418096.2:p.Ala244Val | |
| NM_001080397.2:c.731C>T | NP_001073866.2:p.Ala244Val | |
| XM_011541530.1:c.731C>T | XP_011539832.1:p.Ala244Val | |
| XM_011541531.1:c.638C>T | XP_011539833.1:p.Ala213Val | |
| XM_011541530.2:c.731C>T | XP_011539832.1:p.Ala244Val | |
| XM_011541531.2:c.638C>T | XP_011539833.1:p.Ala213Val | |
| XM_024447371.1:c.638C>T | XP_024303139.1:p.Ala213Val | |
| XM_024447372.1:c.23C>T | XP_024303140.1:p.Ala8Val | |
| NM_001080397.3:c.629C>T MANE Select | NP_001073866.3:p.Ala210Val | |
| NM_001379614.1:c.629C>T | NP_001366543.1:p.Ala210Val | |
| NM_001379615.1:c.536C>T | NP_001366544.1:p.Ala179Val | |
| NM_001379616.1:c.536C>T | NP_001366545.1:p.Ala179Val | |
| NM_001379617.1:c.23C>T | NP_001366546.1:p.Ala8Val | |
| NM_001379618.1:c.23C>T | NP_001366547.1:p.Ala8Val |