Linked Data
dbSNP Id:
rs1044892913
gnomAD v2:
16-67516846-G-C
gnomAD v3:
16-67482943-G-C
gnomAD v4:
16-67482943-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67482943G>C , CM000678.2:g.67482943G>C | GRCh38 |
| NC_000016.9:g.67516846G>C , CM000678.1:g.67516846G>C | GRCh37 |
| NC_000016.8:g.66074347G>C | NCBI36 |
| NG_011482.1:g.3244C>G | |
| NG_011501.1:g.5871C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290953.3:c.216+82C>G (AGRP) MANE Select | ENSP00000290953.3:n.216+82C>G | |
| ENST00000290953.2:c.216+82C>G (AGRP) | ENSP00000290953.2:n.216+82C>G | |
| NM_001138.1:c.216+82C>G (AGRP) | NP_001129.1:n.216+82C>G | |
| XM_011522927.1:c.216+82C>G (AGRP) | XP_011521229.1:n.216+82C>G | |
| XR_243465.2:n.199-1167G>C (ATP6V0D1-DT) | ||
| XR_933690.1:n.200-1167G>C (ATP6V0D1-DT) | ||
| XR_933691.1:n.199-1167G>C (ATP6V0D1-DT) | ||
| XR_933692.1:n.201-1167G>C (ATP6V0D1-DT) | ||
| XR_001752246.1:n.194-1167G>C (ATP6V0D1-DT) | ||
| XR_001752247.1:n.194-1167G>C (ATP6V0D1-DT) | ||
| XR_001752248.1:n.196-1167G>C (ATP6V0D1-DT) | ||
| XR_001752249.1:n.194-1167G>C (ATP6V0D1-DT) | ||
| XR_001752250.1:n.194-1167G>C (ATP6V0D1-DT) | ||
| XR_933690.2:n.196-1167G>C (ATP6V0D1-DT) | ||
| XR_933691.2:n.202-1167G>C (ATP6V0D1-DT) | ||
| XR_933692.2:n.197-1167G>C (ATP6V0D1-DT) | ||
| NM_001138.2:c.216+82C>G (AGRP) MANE Select | NP_001129.1:n.216+82C>G |