Revel Score:
ENST00000155840 (MANE Select)
0.979
ENST00000335475
0.979
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583457A>G , CM000673.2:g.2583457A>G | GRCh38 |
| NC_000011.9:g.2604687A>G , CM000673.1:g.2604687A>G | GRCh37 |
| NC_000011.8:g.2561263A>G | NCBI36 |
| NG_008935.1:g.143467A>G , LRG_287:g.143467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.683A>G | ENSP00000434560.2:p.Tyr228Cys | |
| ENST00000646564.2:c.500A>G | ENSP00000495806.2:p.Tyr167Cys | |
| ENST00000155840.12:c.944A>G MANE Select | ENSP00000155840.2:p.Tyr315Cys | |
| ENST00000335475.6:c.563A>G | ENSP00000334497.5:p.Tyr188Cys | |
| ENST00000646564.1:c.146A>G | ENSP00000495806.1:p.Tyr49Cys | |
| ENST00000155840.9:c.944A>G | ENSP00000155840.2:p.Tyr315Cys | |
| ENST00000335475.5:c.563A>G | ENSP00000334497.5:p.Tyr188Cys | |
| NM_000218.2:c.944A>G , LRG_287t1:c.944A>G | NP_000209.2:p.Tyr315Cys | |
| NM_181798.1:c.563A>G , LRG_287t2:c.563A>G | NP_861463.1:p.Tyr188Cys | |
| NM_000218.3:c.944A>G MANE Select | NP_000209.2:p.Tyr315Cys |