Linked Data
ClinVar Variation Id:
8527
ClinVar RCV Id:
RCV000009053
dbSNP Id:
rs121909308
ExAC:
20:33523414 G / A
gnomAD v2:
20-33523414-G-A
gnomAD v4:
20-34935611-G-A
COSMIC:
COSM4097839
PubMed:
PMID:8896573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34935611G>A , CM000682.2:g.34935611G>A | GRCh38 |
| NC_000020.10:g.33523414G>A , CM000682.1:g.33523414G>A | GRCh37 |
| NC_000020.9:g.32987075G>A | NCBI36 |
| NG_008848.1:g.25188C>T | |
| NG_008848.2:g.25417C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642493.1:c.*474+1152C>T | ENSP00000493524.1:n.*474+1152C>T | |
| ENST00000642498.1:c.799C>T | ENSP00000493631.1:p.Arg267Trp | |
| ENST00000642538.1:c.*143C>T | ENSP00000493927.1:n.*143C>T | |
| ENST00000643188.1:c.799C>T | ENSP00000493903.1:p.Arg267Trp | |
| ENST00000643443.1:c.*506C>T | ENSP00000495572.1:n.*506C>T | |
| ENST00000643502.1:c.456C>T | ||
| ENST00000643908.1:n.1052+1332C>T | ||
| ENST00000644538.1:n.1076C>T | ||
| ENST00000644793.1:c.799C>T | ENSP00000495750.1:p.Arg267Trp | |
| ENST00000645328.1:c.177C>T | ||
| ENST00000645408.1:c.367+1152C>T | ||
| ENST00000645723.1:n.2038C>T | ||
| ENST00000646405.1:c.*252+1152C>T | ENSP00000493744.1:n.*252+1152C>T | |
| ENST00000646497.1:n.744C>T | ||
| ENST00000646502.1:n.1281C>T | ||
| ENST00000646512.1:n.980+1152C>T | ||
| ENST00000646735.1:c.466C>T | ENSP00000493763.1:p.Arg156Trp | |
| ENST00000651619.1:c.799C>T MANE Select | ENSP00000498303.1:p.Arg267Trp | |
| ENST00000216951.6:c.799C>T | ENSP00000216951.2:p.Arg267Trp | |
| ENST00000451957.2:c.466C>T | ENSP00000407517.2:p.Arg156Trp | |
| NM_000178.2:c.799C>T | NP_000169.1:p.Arg267Trp | |
| XM_005260406.3:c.799C>T | XP_005260463.1:p.Arg267Trp | |
| XM_011528796.1:c.799C>T | XP_011527098.1:p.Arg267Trp | |
| NM_000178.4:c.799C>T MANE Select | NP_000169.1:p.Arg267Trp | |
| NM_001322494.1:c.799C>T | NP_001309423.1:p.Arg267Trp | |
| NM_001322495.1:c.799C>T | NP_001309424.1:p.Arg267Trp |