Linked Data
ClinVar Variation Id:
509052
dbSNP Id:
rs143702441
ExAC:
20:50401131 G / A
gnomAD v2:
20-50401131-G-A
gnomAD v3:
20-51784592-G-A
gnomAD v4:
20-51784592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51784592G>A , CM000682.2:g.51784592G>A | GRCh38 |
| NC_000020.10:g.50401131G>A , CM000682.1:g.50401131G>A | GRCh37 |
| NC_000020.9:g.49834538G>A | NCBI36 |
| NG_008000.1:g.22918C>T , LRG_675:g.22918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217086.9:c.2835C>T MANE Select | ENSP00000217086.4:p.Asp945= | |
| ENST00000217086.8:c.2835C>T | ENSP00000217086.4:p.Asp945= | |
| ENST00000371539.7:c.504C>T | ENSP00000360594.3:p.Asp168= | |
| ENST00000395997.3:c.1524C>T | ENSP00000379319.3:p.Asp508= | |
| NM_020436.3:c.2835C>T , LRG_675t1:c.2835C>T | NP_065169.1:p.Asp945= | |
| XM_005260467.2:c.2529C>T | XP_005260524.1:p.Asp843= | |
| XM_006723834.2:c.2529C>T | XP_006723897.1:p.Asp843= | |
| XM_011528919.1:c.2709C>T | XP_011527221.1:p.Asp903= | |
| XM_011528920.1:c.2529C>T | XP_011527222.1:p.Asp843= | |
| XM_011528921.1:c.2529C>T | XP_011527223.1:p.Asp843= | |
| XM_011528922.1:c.2529C>T | XP_011527224.1:p.Asp843= | |
| XM_011528923.1:c.1524C>T | XP_011527225.1:p.Asp508= | |
| NM_001318031.1:c.1524C>T | NP_001304960.1:p.Asp508= | |
| NM_020436.4:c.2835C>T | NP_065169.1:p.Asp945= | |
| XM_005260467.4:c.2529C>T | XP_005260524.1:p.Asp843= | |
| XM_011528921.2:c.2529C>T | XP_011527223.1:p.Asp843= | |
| XM_011528922.2:c.2529C>T | XP_011527224.1:p.Asp843= | |
| NM_020436.5:c.2835C>T MANE Select | NP_065169.1:p.Asp945= | |
| NM_001318031.2:c.1524C>T | NP_001304960.1:p.Asp508= |