Linked Data
ClinVar Variation Id:
133240
ClinVar RCV Id:
RCV000119768
RCV000691233
RCV001788028
RCV001788029
RCV001788030
RCV001788031
RCV001788032
RCV001788033
RCV001788034
RCV002281947
dbSNP Id:
rs193922832
ExAC:
19:39002961 G / A
gnomAD v2:
19-39002961-G-A
gnomAD v4:
19-38512321-G-A
COSMIC:
COSM711601
ERepo:
CA024976/MONDO:0007783/012
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38512321G>A , CM000681.2:g.38512321G>A | GRCh38 |
| NC_000019.9:g.39002961G>A , CM000681.1:g.39002961G>A | GRCh37 |
| NC_000019.8:g.43694801G>A | NCBI36 |
| NG_008866.1:g.83622G>A , LRG_766:g.83622G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.9249G>A | ENSP00000471601.2:n.9249G>A | |
| ENST00000359596.8:c.9310G>A MANE Select | ENSP00000352608.2:p.Glu3104Lys | |
| ENST00000355481.8:c.9310G>A | ENSP00000347667.3:p.Glu3104Lys | |
| ENST00000359596.7:c.9310G>A | ENSP00000352608.2:p.Glu3104Lys | |
| ENST00000360985.7:c.9307G>A | ENSP00000354254.4:p.Glu3103Lys | |
| ENST00000594335.5:c.2712G>A | ||
| ENST00000599547.5:c.117G>A | ||
| NM_000540.2:c.9310G>A , LRG_766t1:c.9310G>A | NP_000531.2:p.Glu3104Lys | |
| NM_001042723.1:c.9310G>A | NP_001036188.1:p.Glu3104Lys | |
| XM_006723317.1:c.9310G>A | XP_006723380.1:p.Glu3104Lys | |
| XM_006723319.1:c.9310G>A | XP_006723382.1:p.Glu3104Lys | |
| XM_011527204.1:c.9307G>A | XP_011525506.1:p.Glu3103Lys | |
| XM_011527205.1:c.9310G>A | XP_011525507.1:p.Glu3104Lys | |
| XM_006723317.2:c.9310G>A | XP_006723380.1:p.Glu3104Lys | |
| XM_006723319.2:c.9310G>A | XP_006723382.1:p.Glu3104Lys | |
| XM_011527205.2:c.9310G>A | XP_011525507.1:p.Glu3104Lys | |
| XR_001753735.1:n.9343G>A | ||
| NM_000540.3:c.9310G>A MANE Select | NP_000531.2:p.Glu3104Lys | |
| NM_001042723.2:c.9310G>A | NP_001036188.1:p.Glu3104Lys |