Linked Data
ClinVar Variation Id:
2290122
ClinVar RCV Id:
RCV002854151
dbSNP Id:
rs763120968
ExAC:
3:124456654 G / A
gnomAD v2:
3-124456654-G-A
gnomAD v3:
3-124737807-G-A
gnomAD v4:
3-124737807-G-A
COSMIC:
COSM3660151
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124737807G>A , CM000665.2:g.124737807G>A | GRCh38 |
| NC_000003.11:g.124456654G>A , CM000665.1:g.124456654G>A | GRCh37 |
| NC_000003.10:g.125939344G>A | NCBI36 |
| NG_017037.1:g.12442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.550G>A MANE Select | ENSP00000232607.2:p.Glu184Lys | |
| ENST00000232607.6:c.550G>A | ENSP00000232607.2:p.Glu184Lys | |
| ENST00000460034.5:c.*294G>A | ENSP00000420409.1:n.*294G>A | |
| ENST00000462091.5:c.*222G>A | ENSP00000417893.1:n.*222G>A | |
| ENST00000467167.5:c.*448G>A | ENSP00000419618.1:n.*448G>A | |
| ENST00000474588.5:c.311-108G>A | ENSP00000420348.1:n.311-108G>A | |
| ENST00000479719.5:c.550G>A | ENSP00000420754.1:p.Glu184Lys | |
| ENST00000497791.5:c.*222G>A | ENSP00000419121.1:n.*222G>A | |
| ENST00000498715.1:n.268G>A | ||
| NM_000373.3:c.550G>A | NP_000364.1:p.Glu184Lys | |
| NR_033434.1:n.502G>A | ||
| NR_033437.1:n.755G>A | ||
| XR_001740253.2:n.580G>A | ||
| NM_000373.4:c.550G>A MANE Select | NP_000364.1:p.Glu184Lys | |
| NR_033434.2:n.416G>A | ||
| NR_033437.2:n.669G>A |