Linked Data
ClinVar Variation Id:
3089404
ClinVar RCV Id:
RCV004385278
dbSNP Id:
rs770133299
ExAC:
3:186572042 C / T
gnomAD v2:
3-186572042-C-T
gnomAD v3:
3-186854253-C-T
gnomAD v4:
3-186854253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186854253C>T , CM000665.2:g.186854253C>T | GRCh38 |
| NC_000003.11:g.186572042C>T , CM000665.1:g.186572042C>T | GRCh37 |
| NC_000003.10:g.188054736C>T | NCBI36 |
| NG_021140.1:g.16580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320741.7:c.284C>T (ADIPOQ) MANE Select | ENSP00000320709.2:p.Pro95Leu | |
| ENST00000320741.6:c.284C>T (ADIPOQ) | ENSP00000320709.2:p.Pro95Leu | |
| ENST00000444204.2:c.284C>T (ADIPOQ) | ENSP00000389814.2:p.Pro95Leu | |
| NM_001177800.1:c.284C>T (ADIPOQ) | NP_001171271.1:p.Pro95Leu | |
| NM_004797.3:c.284C>T (ADIPOQ) | NP_004788.1:p.Pro95Leu | |
| NR_046662.1:n.1871G>A (ADIPOQ-AS1) | ||
| XM_011513324.1:c.284C>T (ADIPOQ) | XP_011511626.1:p.Pro95Leu | |
| NR_046662.2:n.2000G>A (ADIPOQ-AS1) | ||
| NM_004797.4:c.284C>T (ADIPOQ) MANE Select | NP_004788.1:p.Pro95Leu | |
| NM_001177800.2:c.284C>T (ADIPOQ) | NP_001171271.1:p.Pro95Leu |