Linked Data
ClinVar Variation Id:
446446
dbSNP Id:
rs750880909
ExAC:
10:73550924 C / T
gnomAD v2:
10-73550924-C-T
gnomAD v3:
10-71791167-C-T
gnomAD v4:
10-71791167-C-T
COSMIC:
COSM5564930
ERepo:
CA5545996/MONDO:0019497/005
PubMed:
PMID:25963016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71791167C>T , CM000672.2:g.71791167C>T | GRCh38 |
| NC_000010.10:g.73550924C>T , CM000672.1:g.73550924C>T | GRCh37 |
| NC_000010.9:g.73220930C>T | NCBI36 |
| NG_008835.1:g.399221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6085C>T MANE Select | ENSP00000224721.9:p.Arg2029Trp | |
| ENST00000224721.10:c.6100C>T | ENSP00000224721.8:p.Arg2034Trp | |
| ENST00000622827.4:c.6085C>T | ENSP00000483211.1:p.Arg2029Trp | |
| NM_022124.5:c.6085C>T | NP_071407.4:p.Arg2029Trp | |
| XM_006717940.2:c.6280C>T | XP_006718003.1:p.Arg2094Trp | |
| XM_006717942.2:c.6214C>T | XP_006718005.1:p.Arg2072Trp | |
| XM_011540039.1:c.6277C>T | XP_011538341.1:p.Arg2093Trp | |
| XM_011540040.1:c.6274C>T | XP_011538342.1:p.Arg2092Trp | |
| XM_011540041.1:c.6220C>T | XP_011538343.1:p.Arg2074Trp | |
| XM_011540042.1:c.6280C>T | XP_011538344.1:p.Arg2094Trp | |
| XM_011540043.1:c.6280C>T | XP_011538345.1:p.Arg2094Trp | |
| XM_011540044.1:c.6145C>T | XP_011538346.1:p.Arg2049Trp | |
| XM_011540045.1:c.6280C>T | XP_011538347.1:p.Arg2094Trp | |
| XM_011540046.1:c.5740C>T | XP_011538348.1:p.Arg1914Trp | |
| XM_011540047.1:c.5098C>T | XP_011538349.1:p.Arg1700Trp | |
| XM_011540048.1:c.6280C>T | XP_011538350.1:p.Arg2094Trp | |
| XM_011540049.1:c.6280C>T | XP_011538351.1:p.Arg2094Trp | |
| XM_011540050.1:c.6280C>T | XP_011538352.1:p.Arg2094Trp | |
| XM_011540051.1:c.6280C>T | XP_011538353.1:p.Arg2094Trp | |
| XM_011540052.1:c.2608C>T | XP_011538354.1:p.Arg870Trp | |
| XR_945796.1:n.6523C>T | ||
| NM_022124.6:c.6085C>T MANE Select | NP_071407.4:p.Arg2029Trp |