Linked Data
ClinVar Variation Id:
1601918
ClinVar RCV Id:
RCV002136981
dbSNP Id:
rs1310367742
gnomAD v2:
5-151208518-C-T
gnomAD v3:
5-151828957-C-T
gnomAD v4:
5-151828957-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151828957C>T , CM000667.2:g.151828957C>T | GRCh38 |
| NC_000005.9:g.151208518C>T , CM000667.1:g.151208518C>T | GRCh37 |
| NC_000005.8:g.151188711C>T | NCBI36 |
| NG_011764.1:g.100880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1023G>A MANE Select | ENSP00000274576.5:p.Glu341= | |
| ENST00000274576.8:c.1023G>A | ENSP00000274576.4:p.Glu341= | |
| ENST00000455880.2:c.1023G>A | ENSP00000411593.2:p.Glu341= | |
| ENST00000462581.6:c.*781G>A | ENSP00000430595.1:n.*781G>A | |
| NM_000171.3:c.1023G>A | NP_000162.2:p.Glu341= | |
| NM_001146040.1:c.1023G>A | NP_001139512.1:p.Glu341= | |
| NM_001292000.1:c.774G>A | NP_001278929.1:p.Glu258= | |
| NM_000171.4:c.1023G>A MANE Select | NP_000162.2:p.Glu341= | |
| NM_001146040.2:c.1023G>A | NP_001139512.1:p.Glu341= | |
| NM_001292000.2:c.774G>A | NP_001278929.1:p.Glu258= |