Linked Data
ClinVar Variation Id:
12970
ClinVar RCV Id:
RCV000013837
RCV000119698
RCV000551243
RCV000612258
RCV001787719
RCV001787720
RCV001787721
RCV001787722
RCV001787724
RCV001787723
RCV001787725
RCV002288488
RCV002513026
dbSNP Id:
rs121918593
ExAC:
19:38990633 G / A
gnomAD v2:
19-38990633-G-A
gnomAD v3:
19-38499993-G-A
gnomAD v4:
19-38499993-G-A
COSMIC:
COSM307553
ERepo:
CA024747/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38499993G>A , CM000681.2:g.38499993G>A | GRCh38 |
| NC_000019.9:g.38990633G>A , CM000681.1:g.38990633G>A | GRCh37 |
| NC_000019.8:g.43682473G>A | NCBI36 |
| NG_008866.1:g.71294G>A , LRG_766:g.71294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7300G>A | ENSP00000471601.2:p.Gly2434Arg | |
| ENST00000359596.8:c.7300G>A MANE Select | ENSP00000352608.2:p.Gly2434Arg | |
| ENST00000355481.8:c.7300G>A | ENSP00000347667.3:p.Gly2434Arg | |
| ENST00000359596.7:c.7300G>A | ENSP00000352608.2:p.Gly2434Arg | |
| ENST00000360985.7:c.7297G>A | ENSP00000354254.4:p.Gly2433Arg | |
| ENST00000594335.5:c.752G>A | ||
| NM_000540.2:c.7300G>A , LRG_766t1:c.7300G>A | NP_000531.2:p.Gly2434Arg | |
| NM_001042723.1:c.7300G>A | NP_001036188.1:p.Gly2434Arg | |
| XM_006723317.1:c.7300G>A | XP_006723380.1:p.Gly2434Arg | |
| XM_006723319.1:c.7300G>A | XP_006723382.1:p.Gly2434Arg | |
| XM_011527204.1:c.7297G>A | XP_011525506.1:p.Gly2433Arg | |
| XM_011527205.1:c.7300G>A | XP_011525507.1:p.Gly2434Arg | |
| XM_006723317.2:c.7300G>A | XP_006723380.1:p.Gly2434Arg | |
| XM_006723319.2:c.7300G>A | XP_006723382.1:p.Gly2434Arg | |
| XM_011527205.2:c.7300G>A | XP_011525507.1:p.Gly2434Arg | |
| XR_001753735.1:n.7383G>A | ||
| NM_000540.3:c.7300G>A MANE Select | NP_000531.2:p.Gly2434Arg | |
| NM_001042723.2:c.7300G>A | NP_001036188.1:p.Gly2434Arg |