Linked Data
ClinVar Variation Id:
2305859
ClinVar RCV Id:
RCV002874787
dbSNP Id:
rs1049545628
gnomAD v4:
5-151828947-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151828947A>G , CM000667.2:g.151828947A>G | GRCh38 |
| NC_000005.9:g.151208508A>G , CM000667.1:g.151208508A>G | GRCh37 |
| NC_000005.8:g.151188701A>G | NCBI36 |
| NG_011764.1:g.100890T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1033T>C MANE Select | ENSP00000274576.5:p.Phe345Leu | |
| ENST00000274576.8:c.1033T>C | ENSP00000274576.4:p.Phe345Leu | |
| ENST00000455880.2:c.1033T>C | ENSP00000411593.2:p.Phe345Leu | |
| ENST00000462581.6:c.*791T>C | ENSP00000430595.1:n.*791T>C | |
| NM_000171.3:c.1033T>C | NP_000162.2:p.Phe345Leu | |
| NM_001146040.1:c.1033T>C | NP_001139512.1:p.Phe345Leu | |
| NM_001292000.1:c.784T>C | NP_001278929.1:p.Phe262Leu | |
| NM_000171.4:c.1033T>C MANE Select | NP_000162.2:p.Phe345Leu | |
| NM_001146040.2:c.1033T>C | NP_001139512.1:p.Phe345Leu | |
| NM_001292000.2:c.784T>C | NP_001278929.1:p.Phe262Leu |