Linked Data
ClinVar Variation Id:
53141
dbSNP Id:
rs74462309
gnomAD v3:
11-2583457-A-T
gnomAD v4:
11-2583457-A-T
COSMIC:
COSM75090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583457A>T , CM000673.2:g.2583457A>T | GRCh38 |
| NC_000011.9:g.2604687A>T , CM000673.1:g.2604687A>T | GRCh37 |
| NC_000011.8:g.2561263A>T | NCBI36 |
| NG_008935.1:g.143467A>T , LRG_287:g.143467A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.683A>T | ENSP00000434560.2:p.Tyr228Phe | |
| ENST00000646564.2:c.500A>T | ENSP00000495806.2:p.Tyr167Phe | |
| ENST00000155840.12:c.944A>T MANE Select | ENSP00000155840.2:p.Tyr315Phe | |
| ENST00000335475.6:c.563A>T | ENSP00000334497.5:p.Tyr188Phe | |
| ENST00000646564.1:c.146A>T | ENSP00000495806.1:p.Tyr49Phe | |
| ENST00000155840.9:c.944A>T | ENSP00000155840.2:p.Tyr315Phe | |
| ENST00000335475.5:c.563A>T | ENSP00000334497.5:p.Tyr188Phe | |
| NM_000218.2:c.944A>T , LRG_287t1:c.944A>T | NP_000209.2:p.Tyr315Phe | |
| NM_181798.1:c.563A>T , LRG_287t2:c.563A>T | NP_861463.1:p.Tyr188Phe | |
| NM_000218.3:c.944A>T MANE Select | NP_000209.2:p.Tyr315Phe |