Linked Data
ClinVar Variation Id:
253160
ClinVar RCV Id:
RCV000239577
dbSNP Id:
rs142150953
ExAC:
18:33793365 C / T
gnomAD v2:
18-33793365-C-T
gnomAD v3:
18-36213402-C-T
gnomAD v4:
18-36213402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36213402C>T , CM000680.2:g.36213402C>T | GRCh38 |
| NC_000018.9:g.33793365C>T , CM000680.1:g.33793365C>T | GRCh37 |
| NC_000018.8:g.32047363C>T | NCBI36 |
| NG_053177.1:g.31193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261326.6:c.1255C>T MANE Select | ENSP00000261326.4:p.Arg419Ter | |
| ENST00000261326.5:c.1255C>T | ENSP00000261326.4:p.Arg419Ter | |
| NM_017947.2:c.1255C>T | NP_060417.2:p.Arg419Ter | |
| NM_017947.3:c.1255C>T | NP_060417.3:p.Arg419Ter | |
| NM_017947.4:c.1255C>T MANE Select | NP_060417.4:p.Arg419Ter |