Linked Data
ClinVar Variation Id:
465313
dbSNP Id:
rs199641732
ExAC:
1:45974688 A / T
gnomAD v2:
1-45974688-A-T
gnomAD v3:
1-45509016-A-T
gnomAD v4:
1-45509016-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45509016A>T , CM000663.2:g.45509016A>T | GRCh38 |
| NC_000001.10:g.45974688A>T , CM000663.1:g.45974688A>T | GRCh37 |
| NC_000001.9:g.45747275A>T | NCBI36 |
| NG_013378.1:g.13833A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.650A>T MANE Select | ENSP00000383840.4:p.Glu217Val | |
| ENST00000401061.8:c.650A>T | ENSP00000383840.4:p.Glu217Val | |
| ENST00000616135.1:c.479A>T | ENSP00000478859.1:p.Glu160Val | |
| NM_015506.2:c.650A>T | NP_056321.2:p.Glu217Val | |
| XM_005270724.3:c.455A>T | XP_005270781.1:p.Glu152Val | |
| XM_011541204.1:c.479A>T | XP_011539506.1:p.Glu160Val | |
| NM_001330540.1:c.479A>T | NP_001317469.1:p.Glu160Val | |
| XM_005270724.5:c.455A>T | XP_005270781.1:p.Glu152Val | |
| NM_015506.3:c.650A>T MANE Select | NP_056321.2:p.Glu217Val | |
| NM_001330540.2:c.479A>T | NP_001317469.1:p.Glu160Val |