Linked Data
ClinVar Variation Id:
12976
ClinVar RCV Id:
RCV000013845
RCV000119656
RCV000557804
RCV000578323
RCV001787765
RCV001787767
RCV001729347
RCV001787761
RCV001787762
RCV001787763
RCV001787764
RCV001787766
RCV003398498
dbSNP Id:
rs118192176
gnomAD v4:
19-38494579-G-A
COSMIC:
COSM4723230
ERepo:
CA024603/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38494579G>A , CM000681.2:g.38494579G>A | GRCh38 |
| NC_000019.9:g.38985219G>A , CM000681.1:g.38985219G>A | GRCh37 |
| NC_000019.8:g.43677059G>A | NCBI36 |
| NG_008866.1:g.65880G>A , LRG_766:g.65880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.6502G>A | ENSP00000471601.2:p.Val2168Met | |
| ENST00000359596.8:c.6502G>A MANE Select | ENSP00000352608.2:p.Val2168Met | |
| ENST00000355481.8:c.6502G>A | ENSP00000347667.3:p.Val2168Met | |
| ENST00000359596.7:c.6502G>A | ENSP00000352608.2:p.Val2168Met | |
| ENST00000360985.7:c.6499G>A | ENSP00000354254.4:p.Val2167Met | |
| NM_000540.2:c.6502G>A , LRG_766t1:c.6502G>A | NP_000531.2:p.Val2168Met | |
| NM_001042723.1:c.6502G>A | NP_001036188.1:p.Val2168Met | |
| XM_006723317.1:c.6502G>A | XP_006723380.1:p.Val2168Met | |
| XM_006723319.1:c.6502G>A | XP_006723382.1:p.Val2168Met | |
| XM_011527204.1:c.6499G>A | XP_011525506.1:p.Val2167Met | |
| XM_011527205.1:c.6502G>A | XP_011525507.1:p.Val2168Met | |
| XM_006723317.2:c.6502G>A | XP_006723380.1:p.Val2168Met | |
| XM_006723319.2:c.6502G>A | XP_006723382.1:p.Val2168Met | |
| XM_011527205.2:c.6502G>A | XP_011525507.1:p.Val2168Met | |
| XR_001753735.1:n.6585G>A | ||
| NM_000540.3:c.6502G>A MANE Select | NP_000531.2:p.Val2168Met | |
| NM_001042723.2:c.6502G>A | NP_001036188.1:p.Val2168Met |