Linked Data
ClinVar Variation Id:
144
dbSNP Id:
rs267606687
ExAC:
20:741842 A / G
gnomAD v2:
20-741842-A-G
gnomAD v3:
20-761198-A-G
gnomAD v4:
20-761198-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.761198A>G , CM000682.2:g.761198A>G | GRCh38 |
| NC_000020.10:g.741842A>G , CM000682.1:g.741842A>G | GRCh37 |
| NC_000020.9:g.689842A>G | NCBI36 |
| NG_027687.1:g.12387T>C | |
| NG_027687.2:g.19788T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381944.5:c.*452T>C | ENSP00000371370.3:n.*452T>C | |
| ENST00000473664.2:c.732T>C | ENSP00000502741.1:p.Arg244= | |
| ENST00000488495.3:c.1238T>C | ENSP00000494009.1:p.Val413Ala | |
| ENST00000645534.1:c.1238T>C MANE Select | ENSP00000494193.1:p.Val413Ala | |
| ENST00000217254.11:c.1238T>C | ENSP00000217254.7:p.Val413Ala | |
| ENST00000381944.4:c.*452T>C | ENSP00000371370.3:n.*452T>C | |
| ENST00000473664.1:n.783T>C | ||
| ENST00000632431.1:c.1238T>C | ENSP00000488723.1:p.Val413Ala | |
| NM_033409.3:c.1238T>C | NP_212134.3:p.Val413Ala | |
| XM_005260655.3:c.1238T>C | XP_005260712.1:p.Val413Ala | |
| XM_011529148.1:c.1238T>C | XP_011527450.1:p.Val413Ala | |
| XM_005260655.4:c.1238T>C | XP_005260712.1:p.Val413Ala | |
| XM_024451821.1:c.1238T>C | XP_024307589.1:p.Val413Ala | |
| NM_033409.4:c.1238T>C MANE Select | NP_212134.3:p.Val413Ala | |
| NM_001370085.1:c.1238T>C | NP_001357014.1:p.Val413Ala | |
| NM_001370086.1:c.1238T>C | NP_001357015.1:p.Val413Ala |