Linked Data
dbSNP Id:
rs760726285
ExAC:
16:67516938 G / C
gnomAD v2:
16-67516938-G-C
gnomAD v4:
16-67483035-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67483035G>C , CM000678.2:g.67483035G>C | GRCh38 |
| NC_000016.9:g.67516938G>C , CM000678.1:g.67516938G>C | GRCh37 |
| NC_000016.8:g.66074439G>C | NCBI36 |
| NG_011482.1:g.3152C>G | |
| NG_011501.1:g.5779C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290953.3:c.206C>G (AGRP) MANE Select | ENSP00000290953.3:p.Ala69Gly | |
| ENST00000290953.2:c.206C>G (AGRP) | ENSP00000290953.2:p.Ala69Gly | |
| NM_001138.1:c.206C>G (AGRP) | NP_001129.1:p.Ala69Gly | |
| XM_011522927.1:c.206C>G (AGRP) | XP_011521229.1:p.Ala69Gly | |
| XR_243465.2:n.199-1075G>C (ATP6V0D1-DT) | ||
| XR_933690.1:n.200-1075G>C (ATP6V0D1-DT) | ||
| XR_933691.1:n.199-1075G>C (ATP6V0D1-DT) | ||
| XR_933692.1:n.201-1075G>C (ATP6V0D1-DT) | ||
| XR_001752246.1:n.194-1075G>C (ATP6V0D1-DT) | ||
| XR_001752247.1:n.194-1075G>C (ATP6V0D1-DT) | ||
| XR_001752248.1:n.196-1075G>C (ATP6V0D1-DT) | ||
| XR_001752249.1:n.194-1075G>C (ATP6V0D1-DT) | ||
| XR_001752250.1:n.194-1075G>C (ATP6V0D1-DT) | ||
| XR_933690.2:n.196-1075G>C (ATP6V0D1-DT) | ||
| XR_933691.2:n.202-1075G>C (ATP6V0D1-DT) | ||
| XR_933692.2:n.197-1075G>C (ATP6V0D1-DT) | ||
| NM_001138.2:c.206C>G (AGRP) MANE Select | NP_001129.1:p.Ala69Gly |