Linked Data
ClinVar Variation Id:
2404398
ClinVar RCV Id:
RCV004239431
dbSNP Id:
rs769073853
ExAC:
16:67516580 G / A
gnomAD v2:
16-67516580-G-A
gnomAD v3:
16-67482677-G-A
gnomAD v4:
16-67482677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67482677G>A , CM000678.2:g.67482677G>A | GRCh38 |
| NC_000016.9:g.67516580G>A , CM000678.1:g.67516580G>A | GRCh37 |
| NC_000016.8:g.66074081G>A | NCBI36 |
| NG_011482.1:g.3510C>T | |
| NG_011501.1:g.6137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290953.3:c.358C>T (AGRP) MANE Select | ENSP00000290953.3:p.Arg120Cys | |
| ENST00000290953.2:c.358C>T (AGRP) | ENSP00000290953.2:p.Arg120Cys | |
| NM_001138.1:c.358C>T (AGRP) | NP_001129.1:p.Arg120Cys | |
| XM_011522927.1:c.358C>T (AGRP) | XP_011521229.1:p.Arg120Cys | |
| XR_243465.2:n.198+1158G>A (ATP6V0D1-DT) | ||
| XR_933690.1:n.199+1158G>A (ATP6V0D1-DT) | ||
| XR_933691.1:n.198+1158G>A (ATP6V0D1-DT) | ||
| XR_933692.1:n.200+1158G>A (ATP6V0D1-DT) | ||
| XR_001752246.1:n.193+1158G>A (ATP6V0D1-DT) | ||
| XR_001752247.1:n.193+1158G>A (ATP6V0D1-DT) | ||
| XR_001752248.1:n.195+1158G>A (ATP6V0D1-DT) | ||
| XR_001752249.1:n.193+1158G>A (ATP6V0D1-DT) | ||
| XR_001752250.1:n.193+1158G>A (ATP6V0D1-DT) | ||
| XR_933690.2:n.195+1158G>A (ATP6V0D1-DT) | ||
| XR_933691.2:n.201+1158G>A (ATP6V0D1-DT) | ||
| XR_933692.2:n.196+1158G>A (ATP6V0D1-DT) | ||
| NM_001138.2:c.358C>T (AGRP) MANE Select | NP_001129.1:p.Arg120Cys |