Linked Data
ClinVar Variation Id:
189260
ClinVar RCV Id:
RCV000169693
dbSNP Id:
rs786204798
gnomAD v2:
12-49162755-G-A
gnomAD v4:
12-48768972-G-A
PubMed:
PMID:24319099
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48768972G>A , CM000674.2:g.48768972G>A | GRCh38 |
| NC_000012.11:g.49162755G>A , CM000674.1:g.49162755G>A | GRCh37 |
| NC_000012.10:g.47449022G>A | NCBI36 |
| NG_042166.1:g.25125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357869.8:c.3346C>T (ADCY6) MANE Select | ENSP00000350536.4:p.Arg1116Cys | |
| ENST00000307885.4:c.3346C>T (ADCY6) | ENSP00000311405.4:p.Arg1116Cys | |
| ENST00000357869.7:c.3187C>T (ADCY6) | ENSP00000350536.3:p.Arg1063Cys | |
| ENST00000547260.5:n.2200C>T (ADCY6) | ||
| ENST00000550422.5:c.3187C>T (ADCY6) | ENSP00000446730.1:p.Arg1063Cys | |
| NM_015270.3:c.3346C>T (ADCY6) | NP_056085.1:p.Arg1116Cys | |
| NM_015270.4:c.3346C>T (ADCY6) | NP_056085.1:p.Arg1116Cys | |
| NM_020983.2:c.3187C>T (ADCY6) | NP_066193.1:p.Arg1063Cys | |
| XM_006719210.2:c.3346C>T (ADCY6) | XP_006719273.1:p.Arg1116Cys | |
| XM_011537810.1:c.3043C>T (ADCY6) | XP_011536112.1:p.Arg1015Cys | |
| XM_011537811.1:c.2884C>T (ADCY6) | XP_011536113.1:p.Arg962Cys | |
| XR_944483.1:n.3383C>T (ADCY6) | ||
| XM_006719210.4:c.3346C>T (ADCY6) | XP_006719273.1:p.Arg1116Cys | |
| XM_017018743.1:c.3043C>T (ADCY6) | XP_016874232.1:p.Arg1015Cys | |
| XR_001748565.1:n.3804C>T (ADCY6) | ||
| XR_002957306.1:n.586-1116G>A (SPMIP11) | ||
| NM_015270.5:c.3346C>T (ADCY6) MANE Select | NP_056085.1:p.Arg1116Cys | |
| NM_001390830.1:c.3187C>T (ADCY6) | NP_001377759.1:p.Arg1063Cys | |
| NM_001390831.1:c.3346C>T (ADCY6) | NP_001377760.1:p.Arg1116Cys |