Linked Data
ClinVar Variation Id:
376213
dbSNP Id:
rs1057519831
gnomAD v4:
16-81912655-C-T
PubMed:
PMID:24869598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81912655C>T , CM000678.2:g.81912655C>T | GRCh38 |
| NC_000016.9:g.81946260C>T , CM000678.1:g.81946260C>T | GRCh37 |
| NC_000016.8:g.80503761C>T | NCBI36 |
| NG_032019.2:g.178559C>T , LRG_376:g.178559C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570198.2:n.1111C>T | ||
| ENST00000697562.1:c.*853C>T | ENSP00000513338.1:n.*853C>T | |
| ENST00000697563.1:c.*1839C>T | ENSP00000513339.1:n.*1839C>T | |
| ENST00000697564.1:c.1876C>T | ENSP00000513340.1:p.Arg626Trp | |
| ENST00000697581.1:c.*1987C>T | ENSP00000513346.1:n.*1987C>T | |
| ENST00000697582.1:c.1993C>T | ENSP00000513347.1:p.Arg665Trp | |
| ENST00000697583.1:c.1792C>T | ENSP00000513349.1:p.Arg598Trp | |
| ENST00000697584.1:c.1792C>T | ENSP00000513350.1:p.Arg598Trp | |
| ENST00000697585.1:c.1792C>T | ENSP00000513351.1:p.Arg598Trp | |
| ENST00000697586.1:c.1792C>T | ENSP00000513352.1:p.Arg598Trp | |
| ENST00000697587.1:c.1792C>T | ENSP00000513353.1:p.Arg598Trp | |
| ENST00000564138.6:c.1993C>T MANE Select | ENSP00000482457.1:p.Arg665Trp | |
| ENST00000359376.7:c.1993C>T | ENSP00000352336.4:p.Arg665Trp | |
| ENST00000564138.5:c.1993C>T | ENSP00000482457.1:p.Arg665Trp | |
| ENST00000567980.5:n.2237C>T | ||
| NM_002661.4:c.1993C>T | NP_002652.2:p.Arg665Trp | |
| XM_011523108.1:c.2107C>T | XP_011521410.1:p.Arg703Trp | |
| NM_002661.5:c.1993C>T MANE Select | NP_002652.2:p.Arg665Trp |