Linked Data
ClinVar Variation Id:
252
dbSNP Id:
rs121965018
ExAC:
22:43019809 T / C
gnomAD v2:
22-43019809-T-C
gnomAD v3:
22-42623803-T-C
gnomAD v4:
22-42623803-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42623803T>C , CM000684.2:g.42623803T>C | GRCh38 |
| NC_000022.10:g.43019809T>C , CM000684.1:g.43019809T>C | GRCh37 |
| NC_000022.9:g.41349753T>C | NCBI36 |
| NG_012194.1:g.30597A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.851A>G | ENSP00000354468.5:p.Asp284Gly | |
| ENST00000402438.6:c.650A>G | ENSP00000385679.1:p.Asp217Gly | |
| ENST00000407332.6:c.737A>G | ENSP00000384457.2:p.Asp246Gly | |
| ENST00000407623.8:c.650A>G | ENSP00000384834.3:p.Asp217Gly | |
| ENST00000617178.5:c.256A>G | ||
| ENST00000684963.1:n.2459A>G | ||
| ENST00000685184.1:n.311A>G | ||
| ENST00000686523.1:c.*668A>G | ENSP00000508940.1:n.*668A>G | |
| ENST00000687183.1:n.995A>G | ||
| ENST00000687198.1:c.650A>G | ENSP00000508492.1:p.Asp217Gly | |
| ENST00000688117.1:c.818A>G | ENSP00000509015.1:p.Asp273Gly | |
| ENST00000688244.1:c.419A>G | ENSP00000510355.1:p.Asp140Gly | |
| ENST00000689001.1:n.1341A>G | ||
| ENST00000689195.1:c.635A>G | ENSP00000509895.1:p.Asp212Gly | |
| ENST00000689239.1:n.886A>G | ||
| ENST00000689795.1:n.980A>G | ||
| ENST00000690835.1:c.*98A>G | ENSP00000509038.1:n.*98A>G | |
| ENST00000690993.1:n.1474A>G | ||
| ENST00000691295.1:c.*202A>G | ENSP00000508706.1:n.*202A>G | |
| ENST00000691918.1:c.1009A>G | ENSP00000509525.1:n.1009A>G | |
| ENST00000692152.1:c.650A>G | ENSP00000509317.1:p.Asp217Gly | |
| ENST00000692344.1:n.1206A>G | ||
| ENST00000693363.1:c.761A>G | ENSP00000510411.1:p.Asp254Gly | |
| ENST00000693367.1:c.719A>G | ENSP00000508815.1:p.Asp240Gly | |
| ENST00000693639.1:c.712A>G | ENSP00000510223.1:n.712A>G | |
| ENST00000693646.1:c.625A>G | ENSP00000508449.1:n.625A>G | |
| ENST00000352397.10:c.719A>G MANE Select | ENSP00000338461.6:p.Asp240Gly | |
| ENST00000352397.9:c.719A>G | ENSP00000338461.6:p.Asp240Gly | |
| ENST00000361740.8:c.818A>G | ENSP00000354468.4:p.Asp273Gly | |
| ENST00000402438.5:c.650A>G | ENSP00000385679.1:p.Asp217Gly | |
| ENST00000407332.5:c.650A>G | ENSP00000384457.1:p.Asp217Gly | |
| ENST00000407623.7:c.650A>G | ENSP00000384834.3:p.Asp217Gly | |
| ENST00000470741.1:n.2853A>G | ||
| NM_000398.6:c.719A>G | NP_000389.1:p.Asp240Gly | |
| NM_001129819.2:c.650A>G | NP_001123291.1:p.Asp217Gly | |
| NM_001171660.1:c.818A>G | NP_001165131.1:p.Asp273Gly | |
| NM_001171661.1:c.650A>G | NP_001165132.1:p.Asp217Gly | |
| NM_007326.4:c.650A>G | NP_015565.1:p.Asp217Gly | |
| NM_000398.7:c.719A>G MANE Select | NP_000389.1:p.Asp240Gly | |
| NM_001171660.2:c.818A>G | NP_001165131.1:p.Asp273Gly |