Linked Data
ClinVar Variation Id:
1414
ClinVar RCV Id:
RCV000001479
dbSNP Id:
rs121912612
PubMed:
PMID:11340066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069101T>C , CM000665.2:g.165069101T>C | GRCh38 |
| NC_000003.11:g.164786889T>C , CM000665.1:g.164786889T>C | GRCh37 |
| NC_000003.10:g.166269583T>C | NCBI36 |
| NG_017043.1:g.14395A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264382.8:c.350A>G MANE Select | ENSP00000264382.3:p.Gln117Arg | |
| ENST00000264382.7:c.350A>G | ENSP00000264382.3:p.Gln117Arg | |
| ENST00000476593.1:c.*225A>G | ENSP00000419450.1:n.*225A>G | |
| NM_001041.3:c.350A>G | NP_001032.2:p.Gln117Arg | |
| XM_011513078.1:c.251A>G | XP_011511380.1:p.Gln84Arg | |
| XM_011513078.2:c.251A>G | XP_011511380.1:p.Gln84Arg | |
| NM_001041.4:c.350A>G MANE Select | NP_001032.2:p.Gln117Arg |