Linked Data
ClinVar Variation Id:
2394581
ClinVar RCV Id:
RCV004226133
dbSNP Id:
rs201485380
ExAC:
16:67516547 G / A
gnomAD v2:
16-67516547-G-A
gnomAD v3:
16-67482644-G-A
gnomAD v4:
16-67482644-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67482644G>A , CM000678.2:g.67482644G>A | GRCh38 |
| NC_000016.9:g.67516547G>A , CM000678.1:g.67516547G>A | GRCh37 |
| NC_000016.8:g.66074048G>A | NCBI36 |
| NG_011482.1:g.3543C>T | |
| NG_011501.1:g.6170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290953.3:c.391C>T (AGRP) MANE Select | ENSP00000290953.3:p.Arg131Cys | |
| ENST00000290953.2:c.391C>T (AGRP) | ENSP00000290953.2:p.Arg131Cys | |
| NM_001138.1:c.391C>T (AGRP) | NP_001129.1:p.Arg131Cys | |
| XM_011522927.1:c.391C>T (AGRP) | XP_011521229.1:p.Arg131Cys | |
| XR_243465.2:n.198+1125G>A (ATP6V0D1-DT) | ||
| XR_933690.1:n.199+1125G>A (ATP6V0D1-DT) | ||
| XR_933691.1:n.198+1125G>A (ATP6V0D1-DT) | ||
| XR_933692.1:n.200+1125G>A (ATP6V0D1-DT) | ||
| XR_001752246.1:n.193+1125G>A (ATP6V0D1-DT) | ||
| XR_001752247.1:n.193+1125G>A (ATP6V0D1-DT) | ||
| XR_001752248.1:n.195+1125G>A (ATP6V0D1-DT) | ||
| XR_001752249.1:n.193+1125G>A (ATP6V0D1-DT) | ||
| XR_001752250.1:n.193+1125G>A (ATP6V0D1-DT) | ||
| XR_933690.2:n.195+1125G>A (ATP6V0D1-DT) | ||
| XR_933691.2:n.201+1125G>A (ATP6V0D1-DT) | ||
| XR_933692.2:n.196+1125G>A (ATP6V0D1-DT) | ||
| NM_001138.2:c.391C>T (AGRP) MANE Select | NP_001129.1:p.Arg131Cys |