Linked Data
ClinVar Variation Id:
321890
dbSNP Id:
rs370510856
ExAC:
17:1576420 G / A
gnomAD v2:
17-1576420-G-A
gnomAD v3:
17-1673126-G-A
gnomAD v4:
17-1673126-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1673126G>A , CM000679.2:g.1673126G>A | GRCh38 |
| NC_000017.10:g.1576420G>A , CM000679.1:g.1576420G>A | GRCh37 |
| NC_000017.9:g.1523170G>A | NCBI36 |
| NG_009118.1:g.16757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.3729C>T | ENSP00000460849.2:p.Arg1243= | |
| ENST00000703538.1:c.*3452C>T | ENSP00000515361.1:n.*3452C>T | |
| ENST00000703540.1:c.3582C>T | ENSP00000515362.1:p.Arg1194= | |
| ENST00000703541.1:c.3594C>T | ENSP00000515363.1:p.Arg1198= | |
| ENST00000304992.11:c.3729C>T MANE Select | ENSP00000304350.6:p.Arg1243= | |
| ENST00000304992.10:c.3729C>T | ENSP00000304350.6:p.Arg1243= | |
| ENST00000572621.5:c.3729C>T | ENSP00000460348.1:p.Arg1243= | |
| ENST00000574217.1:n.125C>T | ||
| NM_006445.3:c.3729C>T | NP_006436.3:p.Arg1243= | |
| XM_024450537.1:c.3729C>T | XP_024306305.1:p.Arg1243= | |
| NM_006445.4:c.3729C>T MANE Select | NP_006436.3:p.Arg1243= |