Linked Data
dbSNP Id:
rs745327861
ExAC:
16:67516560 C / T
gnomAD v2:
16-67516560-C-T
gnomAD v4:
16-67482657-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67482657C>T , CM000678.2:g.67482657C>T | GRCh38 |
| NC_000016.9:g.67516560C>T , CM000678.1:g.67516560C>T | GRCh37 |
| NC_000016.8:g.66074061C>T | NCBI36 |
| NG_011482.1:g.3530G>A | |
| NG_011501.1:g.6157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290953.3:c.378G>A (AGRP) MANE Select | ENSP00000290953.3:p.Met126Ile | |
| ENST00000290953.2:c.378G>A (AGRP) | ENSP00000290953.2:p.Met126Ile | |
| NM_001138.1:c.378G>A (AGRP) | NP_001129.1:p.Met126Ile | |
| XM_011522927.1:c.378G>A (AGRP) | XP_011521229.1:p.Met126Ile | |
| XR_243465.2:n.198+1138C>T (ATP6V0D1-DT) | ||
| XR_933690.1:n.199+1138C>T (ATP6V0D1-DT) | ||
| XR_933691.1:n.198+1138C>T (ATP6V0D1-DT) | ||
| XR_933692.1:n.200+1138C>T (ATP6V0D1-DT) | ||
| XR_001752246.1:n.193+1138C>T (ATP6V0D1-DT) | ||
| XR_001752247.1:n.193+1138C>T (ATP6V0D1-DT) | ||
| XR_001752248.1:n.195+1138C>T (ATP6V0D1-DT) | ||
| XR_001752249.1:n.193+1138C>T (ATP6V0D1-DT) | ||
| XR_001752250.1:n.193+1138C>T (ATP6V0D1-DT) | ||
| XR_933690.2:n.195+1138C>T (ATP6V0D1-DT) | ||
| XR_933691.2:n.201+1138C>T (ATP6V0D1-DT) | ||
| XR_933692.2:n.196+1138C>T (ATP6V0D1-DT) | ||
| NM_001138.2:c.378G>A (AGRP) MANE Select | NP_001129.1:p.Met126Ile |