Linked Data
ClinVar Variation Id:
91878
dbSNP Id:
rs572362619
ExAC:
1:115226858 T / A
gnomAD v2:
1-115226858-T-A
gnomAD v3:
1-114684237-T-A
gnomAD v4:
1-114684237-T-A
PubMed:
PMID:25155876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684237T>A , CM000663.2:g.114684237T>A | GRCh38 |
| NC_000001.10:g.115226858T>A , CM000663.1:g.115226858T>A | GRCh37 |
| NC_000001.9:g.115028381T>A | NCBI36 |
| NG_008012.1:g.16319A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.497A>T | ENSP00000358551.4:p.Asp166Val | |
| ENST00000520113.7:c.509A>T MANE Select | ENSP00000430075.3:p.Asp170Val | |
| ENST00000637080.1:c.512A>T | ENSP00000489753.1:p.Asp171Val | |
| ENST00000639077.1:n.174A>T | ||
| ENST00000369538.3:c.596A>T | ENSP00000358551.3:p.Asp199Val | |
| ENST00000485564.3:n.383A>T | ||
| ENST00000520113.6:c.608A>T | ENSP00000430075.2:p.Asp203Val | |
| NM_000036.2:c.608A>T | NP_000027.2:p.Asp203Val | |
| NM_001172626.1:c.596A>T | NP_001166097.1:p.Asp199Val | |
| NM_000036.3:c.509A>T MANE Select | NP_000027.3:p.Asp170Val | |
| NM_001172626.2:c.497A>T | NP_001166097.2:p.Asp166Val |