Linked Data
ClinVar Variation Id:
250
dbSNP Id:
rs121965016
ExAC:
22:43015810 C / T
gnomAD v2:
22-43015810-C-T
gnomAD v3:
22-42619804-C-T
gnomAD v4:
22-42619804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42619804C>T , CM000684.2:g.42619804C>T | GRCh38 |
| NC_000022.10:g.43015810C>T , CM000684.1:g.43015810C>T | GRCh37 |
| NC_000022.9:g.41345754C>T | NCBI36 |
| NG_012194.1:g.34596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.1007G>A | ENSP00000354468.5:p.Gly336Asp | |
| ENST00000402438.6:c.806G>A | ENSP00000385679.1:p.Gly269Asp | |
| ENST00000407332.6:c.893G>A | ENSP00000384457.2:p.Gly298Asp | |
| ENST00000407623.8:c.806G>A | ENSP00000384834.3:p.Gly269Asp | |
| ENST00000617178.5:c.412G>A | ||
| ENST00000684963.1:n.2615G>A | ||
| ENST00000685184.1:n.467G>A | ||
| ENST00000686523.1:c.*824G>A | ENSP00000508940.1:n.*824G>A | |
| ENST00000687183.1:n.1151G>A | ||
| ENST00000687198.1:c.806G>A | ENSP00000508492.1:p.Gly269Asp | |
| ENST00000688117.1:c.974G>A | ENSP00000509015.1:p.Gly325Asp | |
| ENST00000688244.1:c.575G>A | ENSP00000510355.1:p.Gly192Asp | |
| ENST00000689001.1:n.1497G>A | ||
| ENST00000689195.1:c.791G>A | ENSP00000509895.1:p.Gly264Asp | |
| ENST00000689239.1:n.1042G>A | ||
| ENST00000689795.1:n.1136G>A | ||
| ENST00000690835.1:c.*254G>A | ENSP00000509038.1:n.*254G>A | |
| ENST00000690993.1:n.1630G>A | ||
| ENST00000691295.1:c.*358G>A | ENSP00000508706.1:n.*358G>A | |
| ENST00000692152.1:c.806G>A | ENSP00000509317.1:p.Gly269Asp | |
| ENST00000692344.1:n.1362G>A | ||
| ENST00000693363.1:c.917G>A | ENSP00000510411.1:p.Gly306Asp | |
| ENST00000693367.1:c.842+33G>A | ENSP00000508815.1:n.842+33G>A | |
| ENST00000352397.10:c.875G>A MANE Select | ENSP00000338461.6:p.Gly292Asp | |
| ENST00000352397.9:c.875G>A | ENSP00000338461.6:p.Gly292Asp | |
| ENST00000361740.8:c.974G>A | ENSP00000354468.4:p.Gly325Asp | |
| ENST00000402438.5:c.806G>A | ENSP00000385679.1:p.Gly269Asp | |
| ENST00000407332.5:c.806G>A | ENSP00000384457.1:p.Gly269Asp | |
| ENST00000407623.7:c.806G>A | ENSP00000384834.3:p.Gly269Asp | |
| ENST00000470741.1:n.3009G>A | ||
| NM_000398.6:c.875G>A | NP_000389.1:p.Gly292Asp | |
| NM_001129819.2:c.806G>A | NP_001123291.1:p.Gly269Asp | |
| NM_001171660.1:c.974G>A | NP_001165131.1:p.Gly325Asp | |
| NM_001171661.1:c.806G>A | NP_001165132.1:p.Gly269Asp | |
| NM_007326.4:c.806G>A | NP_015565.1:p.Gly269Asp | |
| NM_000398.7:c.875G>A MANE Select | NP_000389.1:p.Gly292Asp | |
| NM_001171660.2:c.974G>A | NP_001165131.1:p.Gly325Asp |