Linked Data
ClinVar Variation Id:
922539
dbSNP Id:
rs1277316217
gnomAD v3:
1-55040002-A-T
gnomAD v4:
1-55040002-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55040002A>T , CM000663.2:g.55040002A>T | GRCh38 |
| NC_000001.10:g.55505675A>T , CM000663.1:g.55505675A>T | GRCh37 |
| NC_000001.9:g.55278263A>T | NCBI36 |
| NG_009061.1:g.5456A>T , LRG_275:g.5456A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.165A>T | ENSP00000501161.2:p.Ala55= | |
| ENST00000710286.1:c.522A>T | ENSP00000518176.1:p.Ala174= | |
| ENST00000673726.1:c.165A>T | ENSP00000501004.1:p.Ala55= | |
| ENST00000302118.5:c.165A>T MANE Select | ENSP00000303208.5:p.Ala55= | |
| NM_174936.3:c.165A>T , LRG_275t1:c.165A>T | NP_777596.2:p.Ala55= | |
| NM_174936.4:c.165A>T MANE Select | NP_777596.2:p.Ala55= |