Linked Data
ClinVar Variation Id:
3042029
ClinVar RCV Id:
RCV003924309
dbSNP Id:
rs17366743
ExAC:
3:186572089 T / C
gnomAD v2:
3-186572089-T-C
gnomAD v3:
3-186854300-T-C
gnomAD v4:
3-186854300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186854300T>C , CM000665.2:g.186854300T>C | GRCh38 |
| NC_000003.11:g.186572089T>C , CM000665.1:g.186572089T>C | GRCh37 |
| NC_000003.10:g.188054783T>C | NCBI36 |
| NG_021140.1:g.16627T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320741.7:c.331T>C (ADIPOQ) MANE Select | ENSP00000320709.2:p.Tyr111His | |
| ENST00000320741.6:c.331T>C (ADIPOQ) | ENSP00000320709.2:p.Tyr111His | |
| ENST00000444204.2:c.331T>C (ADIPOQ) | ENSP00000389814.2:p.Tyr111His | |
| NM_001177800.1:c.331T>C (ADIPOQ) | NP_001171271.1:p.Tyr111His | |
| NM_004797.3:c.331T>C (ADIPOQ) | NP_004788.1:p.Tyr111His | |
| NR_046662.1:n.1824A>G (ADIPOQ-AS1) | ||
| XM_011513324.1:c.331T>C (ADIPOQ) | XP_011511626.1:p.Tyr111His | |
| NR_046662.2:n.1953A>G (ADIPOQ-AS1) | ||
| NM_004797.4:c.331T>C (ADIPOQ) MANE Select | NP_004788.1:p.Tyr111His | |
| NM_001177800.2:c.331T>C (ADIPOQ) | NP_001171271.1:p.Tyr111His |