Linked Data
ClinVar Variation Id:
431030
ClinVar RCV Id:
RCV000496010
dbSNP Id:
rs1131692322
gnomAD v4:
11-2570673-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570673C>T , CM000673.2:g.2570673C>T | GRCh38 |
| NC_000011.9:g.2591903C>T , CM000673.1:g.2591903C>T | GRCh37 |
| NC_000011.8:g.2548479C>T | NCBI36 |
| NG_008935.1:g.130683C>T , LRG_287:g.130683C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.262C>T | ENSP00000434560.2:p.Leu88Phe | |
| ENST00000646564.2:c.478-12762C>T | ENSP00000495806.2:n.478-12762C>T | |
| ENST00000155840.12:c.523C>T MANE Select | ENSP00000155840.2:p.Leu175Phe | |
| ENST00000335475.6:c.142C>T | ENSP00000334497.5:p.Leu48Phe | |
| ENST00000646564.1:c.124-12762C>T | ENSP00000495806.1:n.124-12762C>T | |
| ENST00000155840.9:c.523C>T | ENSP00000155840.2:p.Leu175Phe | |
| ENST00000335475.5:c.142C>T | ENSP00000334497.5:p.Leu48Phe | |
| ENST00000496887.6:c.262C>T | ENSP00000434560.1:p.Leu88Phe | |
| NM_000218.2:c.523C>T , LRG_287t1:c.523C>T | NP_000209.2:p.Leu175Phe | |
| NM_181798.1:c.142C>T , LRG_287t2:c.142C>T | NP_861463.1:p.Leu48Phe | |
| NM_000218.3:c.523C>T MANE Select | NP_000209.2:p.Leu175Phe |