Linked Data
ClinVar Variation Id:
9308
ClinVar RCV Id:
RCV000009892
dbSNP Id:
rs6058017
ExAC:
20:32856998 A / G
gnomAD v2:
20-32856998-A-G
gnomAD v3:
20-34269192-A-G
gnomAD v4:
20-34269192-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34269192A>G , CM000682.2:g.34269192A>G | GRCh38 |
| NC_000020.10:g.32856998A>G , CM000682.1:g.32856998A>G | GRCh37 |
| NC_000020.9:g.32320659A>G | NCBI36 |
| NG_011439.1:g.13828A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374954.4:c.*25A>G (ASIP) MANE Select | ENSP00000364092.3:n.*25A>G | |
| ENST00000374954.3:c.*25A>G (ASIP) | ENSP00000364092.3:n.*25A>G | |
| NM_001672.2:c.*25A>G (ASIP) | NP_001663.2:n.*25A>G | |
| XM_005260412.2:c.*25A>G (ASIP) | XP_005260469.1:n.*25A>G | |
| XM_011528657.1:c.*7+11835T>C (AHCY) | XP_011526959.1:n.*7+11835T>C | |
| XM_011528820.1:c.*25A>G (ASIP) | XP_011527122.1:n.*25A>G | |
| XM_011528821.1:c.*25A>G (ASIP) | XP_011527123.1:n.*25A>G | |
| XM_011528822.1:c.*25A>G (ASIP) | XP_011527124.1:n.*25A>G | |
| XM_011528823.1:c.*25A>G (ASIP) | XP_011527125.1:n.*25A>G | |
| XM_005260412.3:c.*25A>G (ASIP) | XP_005260469.1:n.*25A>G | |
| XM_011528657.2:c.*7+11835T>C (AHCY) | XP_011526959.2:n.*7+11835T>C | |
| XM_011528820.2:c.*25A>G (ASIP) | XP_011527122.1:n.*25A>G | |
| NM_001385218.1:c.*25A>G (ASIP) | NP_001372147.1:n.*25A>G | |
| NM_001672.3:c.*25A>G (ASIP) MANE Select | NP_001663.2:n.*25A>G |