Linked Data
ClinVar Variation Id:
249
ClinVar RCV Id:
RCV000000273
dbSNP Id:
rs121965015
ExAC:
22:43023332 C / T
gnomAD v2:
22-43023332-C-T
gnomAD v3:
22-42627326-C-T
gnomAD v4:
22-42627326-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42627326C>T , CM000684.2:g.42627326C>T | GRCh38 |
| NC_000022.10:g.43023332C>T , CM000684.1:g.43023332C>T | GRCh37 |
| NC_000022.9:g.41353276C>T | NCBI36 |
| NG_012194.1:g.27074G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.743G>A | ENSP00000354468.5:p.Cys248Tyr | |
| ENST00000402438.6:c.542G>A | ENSP00000385679.1:p.Cys181Tyr | |
| ENST00000407332.6:c.629G>A | ENSP00000384457.2:p.Cys210Tyr | |
| ENST00000407623.8:c.542G>A | ENSP00000384834.3:p.Cys181Tyr | |
| ENST00000617178.5:c.148G>A | ||
| ENST00000684963.1:n.2351G>A | ||
| ENST00000686523.1:c.*560G>A | ENSP00000508940.1:n.*560G>A | |
| ENST00000687183.1:n.887G>A | ||
| ENST00000687198.1:c.542G>A | ENSP00000508492.1:p.Cys181Tyr | |
| ENST00000688117.1:c.710G>A | ENSP00000509015.1:p.Cys237Tyr | |
| ENST00000688244.1:c.334-3438G>A | ENSP00000510355.1:n.334-3438G>A | |
| ENST00000689001.1:n.1233G>A | ||
| ENST00000689195.1:c.527G>A | ENSP00000509895.1:p.Cys176Tyr | |
| ENST00000689239.1:n.778G>A | ||
| ENST00000689795.1:n.773G>A | ||
| ENST00000690835.1:c.611G>A | ENSP00000509038.1:p.Cys204Tyr | |
| ENST00000690993.1:n.1366G>A | ||
| ENST00000691295.1:c.*94G>A | ENSP00000508706.1:n.*94G>A | |
| ENST00000691918.1:c.590G>A | ENSP00000509525.1:p.Cys197Tyr | |
| ENST00000692152.1:c.542G>A | ENSP00000509317.1:p.Cys181Tyr | |
| ENST00000692344.1:n.1098G>A | ||
| ENST00000693363.1:c.653G>A | ENSP00000510411.1:p.Cys218Tyr | |
| ENST00000693367.1:c.611G>A | ENSP00000508815.1:p.Cys204Tyr | |
| ENST00000693639.1:c.604G>A | ENSP00000510223.1:n.604G>A | |
| ENST00000693646.1:c.517G>A | ENSP00000508449.1:n.517G>A | |
| ENST00000352397.10:c.611G>A MANE Select | ENSP00000338461.6:p.Cys204Tyr | |
| ENST00000352397.9:c.611G>A | ENSP00000338461.6:p.Cys204Tyr | |
| ENST00000361740.8:c.710G>A | ENSP00000354468.4:p.Cys237Tyr | |
| ENST00000402438.5:c.542G>A | ENSP00000385679.1:p.Cys181Tyr | |
| ENST00000407332.5:c.542G>A | ENSP00000384457.1:p.Cys181Tyr | |
| ENST00000407623.7:c.542G>A | ENSP00000384834.3:p.Cys181Tyr | |
| ENST00000470741.1:n.2745G>A | ||
| NM_000398.6:c.611G>A | NP_000389.1:p.Cys204Tyr | |
| NM_001129819.2:c.542G>A | NP_001123291.1:p.Cys181Tyr | |
| NM_001171660.1:c.710G>A | NP_001165131.1:p.Cys237Tyr | |
| NM_001171661.1:c.542G>A | NP_001165132.1:p.Cys181Tyr | |
| NM_007326.4:c.542G>A | NP_015565.1:p.Cys181Tyr | |
| NM_000398.7:c.611G>A MANE Select | NP_000389.1:p.Cys204Tyr | |
| NM_001171660.2:c.710G>A | NP_001165131.1:p.Cys237Tyr |