Linked Data
ClinVar Variation Id:
41929
dbSNP Id:
rs387907338
gnomAD v2:
11-111782283-G-A
gnomAD v3:
11-111911559-G-A
gnomAD v4:
11-111911559-G-A
PubMed:
PMID:19461931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111911559G>A , CM000673.2:g.111911559G>A | GRCh38 |
| NC_000011.9:g.111782283G>A , CM000673.1:g.111782283G>A | GRCh37 |
| NC_000011.8:g.111287493G>A | NCBI36 |
| NG_009824.2:g.17164C>T | |
| NG_033080.1:g.3824G>A | |
| NG_009824.3:g.17164C>T | |
| NG_033080.2:g.3824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526180.6:c.166C>T | ENSP00000436051.1:p.Arg56Trp | |
| ENST00000527899.6:c.166C>T | ENSP00000436089.2:p.Arg56Trp | |
| ENST00000533475.6:c.166C>T | ENSP00000433560.1:p.Arg56Trp | |
| ENST00000533879.2:c.166C>T | ENSP00000435931.2:p.Arg56Trp | |
| ENST00000533971.2:c.166C>T | ENSP00000434269.1:p.Arg56Trp | |
| ENST00000616970.5:c.166C>T | ENSP00000483554.1:p.Arg56Trp | |
| ENST00000650687.2:c.166C>T MANE Select | ENSP00000499082.1:p.Arg56Trp | |
| ENST00000651164.1:c.166C>T | ENSP00000498735.1:p.Arg56Trp | |
| ENST00000652223.1:n.478C>T | ||
| ENST00000652606.1:n.410C>T | ||
| ENST00000227251.7:c.166C>T | ENSP00000227251.3:p.Arg56Trp | |
| ENST00000526180.5:c.166C>T | ENSP00000436051.1:p.Arg56Trp | |
| ENST00000527899.5:c.166C>T | ENSP00000436089.1:p.Arg56Trp | |
| ENST00000527950.5:c.166C>T | ENSP00000437149.1:p.Arg56Trp | |
| ENST00000528628.5:c.166C>T | ENSP00000432182.1:p.Arg56Trp | |
| ENST00000529647.5:c.166C>T | ENSP00000431754.1:p.Arg56Trp | |
| ENST00000531198.5:c.166C>T | ENSP00000434247.1:p.Arg56Trp | |
| ENST00000533475.5:c.166C>T | ENSP00000433560.1:p.Arg56Trp | |
| ENST00000533879.1:c.166C>T | ENSP00000435931.1:p.Arg56Trp | |
| ENST00000533971.1:c.166C>T | ENSP00000434269.1:p.Arg56Trp | |
| ENST00000616970.4:c.166C>T | ENSP00000483554.1:p.Arg56Trp | |
| NM_001289807.1:c.166C>T | NP_001276736.1:p.Arg56Trp | |
| NM_001289808.1:c.166C>T | NP_001276737.1:p.Arg56Trp | |
| NM_001885.2:c.166C>T | NP_001876.1:p.Arg56Trp | |
| XM_011542608.1:c.166C>T | XP_011540910.1:p.Arg56Trp | |
| NM_001289808.2:c.166C>T MANE Select | NP_001276737.1:p.Arg56Trp | |
| NM_001368245.1:c.166C>T | NP_001355174.1:p.Arg56Trp | |
| NM_001885.3:c.166C>T | NP_001876.1:p.Arg56Trp |