Linked Data
ClinVar Variation Id:
590579
ClinVar RCV Id:
RCV000721635
dbSNP Id:
rs1568500778
gnomAD v4:
19-38499649-G-A
COSMIC:
COSM5855657
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38499649G>A , CM000681.2:g.38499649G>A | GRCh38 |
| NC_000019.9:g.38990289G>A , CM000681.1:g.38990289G>A | GRCh37 |
| NC_000019.8:g.43682129G>A | NCBI36 |
| NG_008866.1:g.70950G>A , LRG_766:g.70950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7042G>A | ENSP00000471601.2:p.Glu2348Lys | |
| ENST00000359596.8:c.7042G>A MANE Select | ENSP00000352608.2:p.Glu2348Lys | |
| ENST00000355481.8:c.7042G>A | ENSP00000347667.3:p.Glu2348Lys | |
| ENST00000359596.7:c.7042G>A | ENSP00000352608.2:p.Glu2348Lys | |
| ENST00000360985.7:c.7039G>A | ENSP00000354254.4:p.Glu2347Lys | |
| ENST00000594335.5:c.494G>A | ||
| NM_000540.2:c.7042G>A , LRG_766t1:c.7042G>A | NP_000531.2:p.Glu2348Lys | |
| NM_001042723.1:c.7042G>A | NP_001036188.1:p.Glu2348Lys | |
| XM_006723317.1:c.7042G>A | XP_006723380.1:p.Glu2348Lys | |
| XM_006723319.1:c.7042G>A | XP_006723382.1:p.Glu2348Lys | |
| XM_011527204.1:c.7039G>A | XP_011525506.1:p.Glu2347Lys | |
| XM_011527205.1:c.7042G>A | XP_011525507.1:p.Glu2348Lys | |
| XM_006723317.2:c.7042G>A | XP_006723380.1:p.Glu2348Lys | |
| XM_006723319.2:c.7042G>A | XP_006723382.1:p.Glu2348Lys | |
| XM_011527205.2:c.7042G>A | XP_011525507.1:p.Glu2348Lys | |
| XR_001753735.1:n.7125G>A | ||
| NM_000540.3:c.7042G>A MANE Select | NP_000531.2:p.Glu2348Lys | |
| NM_001042723.2:c.7042G>A | NP_001036188.1:p.Glu2348Lys |