Linked Data
dbSNP Id:
rs749741094
ExAC:
16:67516579 C / T
gnomAD v2:
16-67516579-C-T
gnomAD v3:
16-67482676-C-T
gnomAD v4:
16-67482676-C-T
COSMIC:
COSM4660421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67482676C>T , CM000678.2:g.67482676C>T | GRCh38 |
| NC_000016.9:g.67516579C>T , CM000678.1:g.67516579C>T | GRCh37 |
| NC_000016.8:g.66074080C>T | NCBI36 |
| NG_011482.1:g.3511G>A | |
| NG_011501.1:g.6138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290953.3:c.359G>A (AGRP) MANE Select | ENSP00000290953.3:p.Arg120His | |
| ENST00000290953.2:c.359G>A (AGRP) | ENSP00000290953.2:p.Arg120His | |
| NM_001138.1:c.359G>A (AGRP) | NP_001129.1:p.Arg120His | |
| XM_011522927.1:c.359G>A (AGRP) | XP_011521229.1:p.Arg120His | |
| XR_243465.2:n.198+1157C>T (ATP6V0D1-DT) | ||
| XR_933690.1:n.199+1157C>T (ATP6V0D1-DT) | ||
| XR_933691.1:n.198+1157C>T (ATP6V0D1-DT) | ||
| XR_933692.1:n.200+1157C>T (ATP6V0D1-DT) | ||
| XR_001752246.1:n.193+1157C>T (ATP6V0D1-DT) | ||
| XR_001752247.1:n.193+1157C>T (ATP6V0D1-DT) | ||
| XR_001752248.1:n.195+1157C>T (ATP6V0D1-DT) | ||
| XR_001752249.1:n.193+1157C>T (ATP6V0D1-DT) | ||
| XR_001752250.1:n.193+1157C>T (ATP6V0D1-DT) | ||
| XR_933690.2:n.195+1157C>T (ATP6V0D1-DT) | ||
| XR_933691.2:n.201+1157C>T (ATP6V0D1-DT) | ||
| XR_933692.2:n.196+1157C>T (ATP6V0D1-DT) | ||
| NM_001138.2:c.359G>A (AGRP) MANE Select | NP_001129.1:p.Arg120His |