Linked Data
ClinVar Variation Id:
321881
dbSNP Id:
rs185936129
ExAC:
17:1562767 G / A
gnomAD v2:
17-1562767-G-A
gnomAD v3:
17-1659473-G-A
gnomAD v4:
17-1659473-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1659473G>A , CM000679.2:g.1659473G>A | GRCh38 |
| NC_000017.10:g.1562767G>A , CM000679.1:g.1562767G>A | GRCh37 |
| NC_000017.9:g.1509517G>A | NCBI36 |
| NG_009118.1:g.30410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.4842C>T | ENSP00000460849.2:p.His1614= | |
| ENST00000703537.1:c.833C>T | ||
| ENST00000703538.1:c.*4745C>T | ENSP00000515361.1:n.*4745C>T | |
| ENST00000703539.1:n.1336C>T | ||
| ENST00000703540.1:c.4875C>T | ENSP00000515362.1:p.His1625= | |
| ENST00000703541.1:c.4887C>T | ENSP00000515363.1:p.His1629= | |
| ENST00000304992.11:c.5022C>T MANE Select | ENSP00000304350.6:p.His1674= | |
| ENST00000304992.10:c.5022C>T | ENSP00000304350.6:p.His1674= | |
| ENST00000572621.5:c.5022C>T | ENSP00000460348.1:p.His1674= | |
| ENST00000573681.1:n.1035C>T | ||
| NM_006445.3:c.5022C>T | NP_006436.3:p.His1674= | |
| XM_024450537.1:c.5022C>T | XP_024306305.1:p.His1674= | |
| NM_006445.4:c.5022C>T MANE Select | NP_006436.3:p.His1674= |