Linked Data
ClinVar Variation Id:
1776809
ClinVar RCV Id:
RCV002401267
dbSNP Id:
rs1708130193
gnomAD v4:
3-8745573-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745573T>G , CM000665.2:g.8745573T>G | GRCh38 |
| NC_000003.11:g.8787259T>G , CM000665.1:g.8787259T>G | GRCh37 |
| NC_000003.10:g.8762259T>G | NCBI36 |
| NG_008797.2:g.16764T>G , LRG_329:g.16764T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.162T>G MANE Select | ENSP00000341940.2:p.Phe54Leu | |
| ENST00000343849.2:c.162T>G | ENSP00000341940.2:p.Phe54Leu | |
| ENST00000397368.2:c.162T>G | ENSP00000380525.2:p.Phe54Leu | |
| ENST00000472766.1:n.155+11583T>G | ||
| NM_001234.4:c.162T>G | NP_001225.1:p.Phe54Leu | |
| NM_033337.2:c.162T>G , LRG_329t1:c.162T>G | NP_203123.1:p.Phe54Leu | |
| NM_001234.5:c.162T>G | NP_001225.1:p.Phe54Leu | |
| NM_033337.3:c.162T>G MANE Select | NP_203123.1:p.Phe54Leu |