Linked Data
ClinVar Variation Id:
927122
dbSNP Id:
rs1048283339
gnomAD v3:
1-55043877-T-A
gnomAD v4:
1-55043877-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043877T>A , CM000663.2:g.55043877T>A | GRCh38 |
| NC_000001.10:g.55509550T>A , CM000663.1:g.55509550T>A | GRCh37 |
| NC_000001.9:g.55282138T>A | NCBI36 |
| NG_009061.1:g.9331T>A , LRG_275:g.9331T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.242T>A | ENSP00000501161.2:p.Val81Glu | |
| ENST00000710286.1:c.599T>A | ENSP00000518176.1:p.Val200Glu | |
| ENST00000673726.1:c.242T>A | ENSP00000501004.1:p.Val81Glu | |
| ENST00000673903.1:c.-134T>A | ENSP00000501257.1:n.-134T>A | |
| ENST00000302118.5:c.242T>A MANE Select | ENSP00000303208.5:p.Val81Glu | |
| NM_174936.3:c.242T>A , LRG_275t1:c.242T>A | NP_777596.2:p.Val81Glu | |
| NR_110451.1:n.182+3474T>A | ||
| NM_174936.4:c.242T>A MANE Select | NP_777596.2:p.Val81Glu | |
| NR_110451.2:n.182+3474T>A |