Linked Data
ClinVar Variation Id:
225007
dbSNP Id:
rs745372589
ExAC:
16:27454397 A / G
gnomAD v2:
16-27454397-A-G
gnomAD v3:
16-27443076-A-G
gnomAD v4:
16-27443076-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27443076A>G , CM000678.2:g.27443076A>G | GRCh38 |
| NC_000016.9:g.27454397A>G , CM000678.1:g.27454397A>G | GRCh37 |
| NC_000016.8:g.27361898A>G | NCBI36 |
| NG_012222.1:g.45675A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697146.1:c.*63A>G | ENSP00000513135.1:n.*63A>G | |
| ENST00000337929.8:c.467A>G MANE Select | ENSP00000338010.3:p.Tyr156Cys | |
| ENST00000337929.7:c.467A>G | ENSP00000338010.3:p.Tyr156Cys | |
| ENST00000395754.4:c.467A>G | ENSP00000379103.4:p.Tyr156Cys | |
| ENST00000561953.1:n.407A>G | ||
| ENST00000564089.5:c.467A>G | ENSP00000456707.1:p.Tyr156Cys | |
| NM_021798.3:c.467A>G | NP_068570.1:p.Tyr156Cys | |
| NM_181078.2:c.467A>G | NP_851564.1:p.Tyr156Cys | |
| NM_181079.4:c.533A>G | NP_851565.4:p.Tyr178Cys | |
| XM_011545857.1:c.533A>G | XP_011544159.1:p.Tyr178Cys | |
| XM_011545858.1:c.136-1466A>G | XP_011544160.1:n.136-1466A>G | |
| XM_011545857.3:c.533A>G | XP_011544159.1:p.Tyr178Cys | |
| XM_011545858.3:c.136-1466A>G | XP_011544160.1:n.136-1466A>G | |
| XM_017023257.2:c.467A>G | XP_016878746.1:p.Tyr156Cys | |
| NM_181078.3:c.467A>G MANE Select | NP_851564.1:p.Tyr156Cys | |
| NM_021798.4:c.467A>G | NP_068570.1:p.Tyr156Cys | |
| NM_181079.5:c.533A>G | NP_851565.4:p.Tyr178Cys |