Linked Data
dbSNP Id:
rs752295493
ExAC:
16:67516960 C / T
gnomAD v2:
16-67516960-C-T
gnomAD v4:
16-67483057-C-T
COSMIC:
COSM3511036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67483057C>T , CM000678.2:g.67483057C>T | GRCh38 |
| NC_000016.9:g.67516960C>T , CM000678.1:g.67516960C>T | GRCh37 |
| NC_000016.8:g.66074461C>T | NCBI36 |
| NG_011482.1:g.3130G>A | |
| NG_011501.1:g.5757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290953.3:c.184G>A (AGRP) MANE Select | ENSP00000290953.3:p.Asp62Asn | |
| ENST00000290953.2:c.184G>A (AGRP) | ENSP00000290953.2:p.Asp62Asn | |
| NM_001138.1:c.184G>A (AGRP) | NP_001129.1:p.Asp62Asn | |
| XM_011522927.1:c.184G>A (AGRP) | XP_011521229.1:p.Asp62Asn | |
| XR_243465.2:n.199-1053C>T (ATP6V0D1-DT) | ||
| XR_933690.1:n.200-1053C>T (ATP6V0D1-DT) | ||
| XR_933691.1:n.199-1053C>T (ATP6V0D1-DT) | ||
| XR_933692.1:n.201-1053C>T (ATP6V0D1-DT) | ||
| XR_001752246.1:n.194-1053C>T (ATP6V0D1-DT) | ||
| XR_001752247.1:n.194-1053C>T (ATP6V0D1-DT) | ||
| XR_001752248.1:n.196-1053C>T (ATP6V0D1-DT) | ||
| XR_001752249.1:n.194-1053C>T (ATP6V0D1-DT) | ||
| XR_001752250.1:n.194-1053C>T (ATP6V0D1-DT) | ||
| XR_933690.2:n.196-1053C>T (ATP6V0D1-DT) | ||
| XR_933691.2:n.202-1053C>T (ATP6V0D1-DT) | ||
| XR_933692.2:n.197-1053C>T (ATP6V0D1-DT) | ||
| NM_001138.2:c.184G>A (AGRP) MANE Select | NP_001129.1:p.Asp62Asn |