Linked Data
ClinVar Variation Id:
2796413
ClinVar RCV Id:
RCV003600795
dbSNP Id:
rs140826112
ExAC:
5:10256095 G / A
gnomAD v2:
5-10256095-G-A
gnomAD v3:
5-10255983-G-A
gnomAD v4:
5-10255983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10255983G>A , CM000667.2:g.10255983G>A | GRCh38 |
| NC_000005.9:g.10256095G>A , CM000667.1:g.10256095G>A | GRCh37 |
| NC_000005.8:g.10309095G>A | NCBI36 |
| NG_012160.1:g.10814G>A , LRG_361:g.10814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.360G>A MANE Select | ENSP00000280326.4:p.Ala120= | |
| ENST00000280326.8:c.360G>A | ENSP00000280326.4:p.Ala120= | |
| ENST00000423695.6:n.128-2128G>A | ||
| ENST00000503026.5:c.297G>A | ENSP00000423318.1:p.Ala99= | |
| ENST00000503454.5:c.249G>A | ||
| ENST00000506600.1:c.81G>A | ENSP00000423052.1:p.Ala27= | |
| ENST00000511700.1:c.275G>A | ENSP00000423087.1:n.275G>A | |
| ENST00000512975.5:c.106-2128G>A | ENSP00000425751.1:n.106-2128G>A | |
| ENST00000515390.5:c.195G>A | ENSP00000426923.1:p.Ala65= | |
| ENST00000515676.5:c.246G>A | ENSP00000427297.1:p.Ala82= | |
| ENST00000625723.1:c.106-2128G>A | ENSP00000487128.1:n.106-2128G>A | |
| NM_001306153.1:c.297G>A | NP_001293082.1:p.Ala99= | |
| NM_001306154.1:c.195G>A | NP_001293083.1:p.Ala65= | |
| NM_001306155.1:c.81G>A | NP_001293084.1:p.Ala27= | |
| NM_001306156.1:c.246G>A | NP_001293085.1:p.Ala82= | |
| NM_012073.3:c.360G>A , LRG_361t1:c.360G>A | NP_036205.1:p.Ala120= | |
| NM_012073.4:c.360G>A | NP_036205.1:p.Ala120= | |
| NM_012073.5:c.360G>A MANE Select | NP_036205.1:p.Ala120= | |
| NM_001306154.2:c.195G>A | NP_001293083.1:p.Ala65= | |
| NM_001306155.2:c.81G>A | NP_001293084.1:p.Ala27= | |
| NM_001306156.2:c.246G>A | NP_001293085.1:p.Ala82= |