Linked Data
ClinVar Variation Id:
161784
ClinVar RCV Id:
RCV000149320
dbSNP Id:
rs193921138
gnomAD v4:
10-5921264-C-T
COSMIC:
COSM1179583
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5921264C>T , CM000672.2:g.5921264C>T | GRCh38 |
| NC_000010.10:g.5963227C>T , CM000672.1:g.5963227C>T | GRCh37 |
| NC_000010.9:g.6003233C>T | NCBI36 |
| NG_047206.1:g.36693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362091.9:c.2107C>T MANE Select | ENSP00000355415.4:p.Arg703Trp | |
| ENST00000362091.8:c.2107C>T | ENSP00000355415.4:p.Arg703Trp | |
| ENST00000379999.6:c.2260C>T | ENSP00000369335.5:p.Arg754Trp | |
| ENST00000397269.7:c.1885C>T | ENSP00000380439.4:p.Arg629Trp | |
| NM_001258452.1:c.1885C>T | NP_001245381.1:p.Arg629Trp | |
| NM_001258453.1:c.1885C>T | NP_001245382.1:p.Arg629Trp | |
| NM_032807.4:c.2260C>T | NP_116196.3:p.Arg754Trp | |
| NM_178150.2:c.2107C>T | NP_835363.1:p.Arg703Trp | |
| XM_011519748.1:c.2260C>T | XP_011518050.1:p.Arg754Trp | |
| XM_011519749.1:c.1318C>T | XP_011518051.1:p.Arg440Trp | |
| XR_930522.1:n.2106C>T | ||
| XM_011519748.2:c.2260C>T | XP_011518050.1:p.Arg754Trp | |
| XM_017016842.1:c.2260C>T | XP_016872331.1:p.Arg754Trp | |
| XM_017016843.1:c.2260C>T | XP_016872332.1:p.Arg754Trp | |
| XM_017016844.2:c.2107C>T | XP_016872333.1:p.Arg703Trp | |
| XM_017016845.1:c.2104C>T | XP_016872334.1:p.Arg702Trp | |
| XM_017016846.2:c.751C>T | XP_016872335.1:p.Arg251Trp | |
| XM_024448240.1:c.1885C>T | XP_024304008.1:p.Arg629Trp | |
| XM_024448241.1:c.1885C>T | XP_024304009.1:p.Arg629Trp | |
| XR_001747242.2:n.2013-184C>T | ||
| XR_001747243.2:n.2250C>T | ||
| XR_001747244.2:n.2244-184C>T | ||
| XR_002957026.1:n.2013-184C>T | ||
| XR_002957028.1:n.2045C>T | ||
| NM_001258452.2:c.1885C>T | NP_001245381.1:p.Arg629Trp | |
| NM_001258453.2:c.1885C>T | NP_001245382.1:p.Arg629Trp | |
| NM_032807.5:c.2260C>T | NP_116196.3:p.Arg754Trp | |
| NM_178150.3:c.2107C>T MANE Select | NP_835363.1:p.Arg703Trp |