Linked Data
ClinVar Variation Id:
183410
dbSNP Id:
rs869025196
gnomAD v3:
1-155904489-G-A
gnomAD v4:
1-155904489-G-A
PubMed:
PMID:26757980
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904489G>A , CM000663.2:g.155904489G>A | GRCh38 |
| NC_000001.10:g.155874280G>A , CM000663.1:g.155874280G>A | GRCh37 |
| NC_000001.9:g.154140904G>A | NCBI36 |
| NG_033885.1:g.11914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461050.6:c.259C>T | ENSP00000476319.1:p.Pro87Ser | |
| ENST00000539040.6:c.143C>T | ENSP00000441950.1:p.Ala48Val | |
| ENST00000704061.1:c.228C>T | ENSP00000515664.1:p.Ser76= | |
| ENST00000368323.8:c.251C>T MANE Select | ENSP00000357306.3:p.Ala84Val | |
| ENST00000651833.1:c.251C>T | ENSP00000498732.1:p.Ala84Val | |
| ENST00000651853.1:c.254C>T | ENSP00000498685.1:p.Ala85Val | |
| ENST00000368322.7:c.302C>T | ENSP00000357305.3:p.Ala101Val | |
| ENST00000368323.7:c.251C>T | ENSP00000357306.3:p.Ala84Val | |
| ENST00000461050.5:c.259C>T | ENSP00000476319.1:p.Pro87Ser | |
| ENST00000539040.5:c.143C>T | ENSP00000441950.1:p.Ala48Val | |
| ENST00000609492.1:c.251C>T | ENSP00000476612.1:p.Ala84Val | |
| NM_001256820.1:c.143C>T | NP_001243749.1:p.Ala48Val | |
| NM_001256821.1:c.302C>T | NP_001243750.1:p.Ala101Val | |
| NM_006912.5:c.251C>T | NP_008843.1:p.Ala84Val | |
| NM_001256820.2:c.143C>T | NP_001243749.1:p.Ala48Val | |
| NM_001256821.2:c.302C>T | NP_001243750.1:p.Ala101Val | |
| NM_006912.6:c.251C>T MANE Select | NP_008843.1:p.Ala84Val |