Revel Score:
ENST00000256474 (MANE Select)
0.908
ENST00000345392
0.908
ENST00000450183
0.908
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149808G>T , CM000665.2:g.10149808G>T | GRCh38 |
| NC_000003.11:g.10191492G>T , CM000665.1:g.10191492G>T | GRCh37 |
| NC_000003.10:g.10166492G>T | NCBI36 |
| NG_008212.3:g.13174G>T , LRG_322:g.13174G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*162G>T | ENSP00000512434.1:n.*162G>T | |
| ENST00000696143.1:c.621G>T | ENSP00000512435.1:n.621G>T | |
| ENST00000696153.1:c.596G>T | ENSP00000512444.1:p.Cys199Phe | |
| ENST00000256474.3:c.485G>T MANE Select | ENSP00000256474.3:p.Cys162Phe | |
| ENST00000256474.2:c.485G>T | ENSP00000256474.2:p.Cys162Phe | |
| ENST00000345392.2:c.362G>T | ENSP00000344757.2:p.Cys121Phe | |
| ENST00000477538.1:n.621G>T | ||
| NM_000551.3:c.485G>T , LRG_322t1:c.485G>T | NP_000542.1:p.Cys162Phe | |
| NM_198156.2:c.362G>T | NP_937799.1:p.Cys121Phe | |
| NM_001354723.1:c.*39G>T | NP_001341652.1:n.*39G>T | |
| NM_000551.4:c.485G>T MANE Select | NP_000542.1:p.Cys162Phe | |
| NM_001354723.2:c.*39G>T | NP_001341652.1:n.*39G>T | |
| NM_198156.3:c.362G>T | NP_937799.1:p.Cys121Phe |