Linked Data
ClinVar Variation Id:
53035
dbSNP Id:
rs199472678
ExAC:
11:2466660 A / G
gnomAD v2:
11-2466660-A-G
gnomAD v4:
11-2445430-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445430A>G , CM000673.2:g.2445430A>G | GRCh38 |
| NC_000011.9:g.2466660A>G , CM000673.1:g.2466660A>G | GRCh37 |
| NC_000011.8:g.2423236A>G | NCBI36 |
| NG_008935.1:g.5440A>G , LRG_287:g.5440A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.71A>G | ENSP00000434560.2:p.Tyr24Cys | |
| ENST00000646564.2:c.332A>G | ENSP00000495806.2:p.Tyr111Cys | |
| ENST00000155840.12:c.332A>G MANE Select | ENSP00000155840.2:p.Tyr111Cys | |
| ENST00000155840.9:c.332A>G | ENSP00000155840.2:p.Tyr111Cys | |
| ENST00000345015.4:n.109A>G | ||
| ENST00000496887.6:c.71A>G | ENSP00000434560.1:p.Tyr24Cys | |
| NM_000218.2:c.332A>G , LRG_287t1:c.332A>G | NP_000209.2:p.Tyr111Cys | |
| NM_000218.3:c.332A>G MANE Select | NP_000209.2:p.Tyr111Cys |