Linked Data
ClinVar Variation Id:
657799
ClinVar RCV Id:
RCV000814488
dbSNP Id:
rs77451630
ExAC:
5:151208519 T / C
gnomAD v2:
5-151208519-T-C
gnomAD v3:
5-151828958-T-C
gnomAD v4:
5-151828958-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151828958T>C , CM000667.2:g.151828958T>C | GRCh38 |
| NC_000005.9:g.151208519T>C , CM000667.1:g.151208519T>C | GRCh37 |
| NC_000005.8:g.151188712T>C | NCBI36 |
| NG_011764.1:g.100879A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1022A>G MANE Select | ENSP00000274576.5:p.Glu341Gly | |
| ENST00000274576.8:c.1022A>G | ENSP00000274576.4:p.Glu341Gly | |
| ENST00000455880.2:c.1022A>G | ENSP00000411593.2:p.Glu341Gly | |
| ENST00000462581.6:c.*780A>G | ENSP00000430595.1:n.*780A>G | |
| NM_000171.3:c.1022A>G | NP_000162.2:p.Glu341Gly | |
| NM_001146040.1:c.1022A>G | NP_001139512.1:p.Glu341Gly | |
| NM_001292000.1:c.773A>G | NP_001278929.1:p.Glu258Gly | |
| NM_000171.4:c.1022A>G MANE Select | NP_000162.2:p.Glu341Gly | |
| NM_001146040.2:c.1022A>G | NP_001139512.1:p.Glu341Gly | |
| NM_001292000.2:c.773A>G | NP_001278929.1:p.Glu258Gly |