ClinVar Variation:
COSMIC:
COSM170469
dbSNP:
gnomAD v3:
Revel Score:
ENST00000429709 (MANE Select)
0.831
ENST00000450518
0.831
ENST00000392662
0.831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179586552C>T , CM000665.2:g.179586552C>T | GRCh38 |
| NC_000003.11:g.179304340C>T , CM000665.1:g.179304340C>T | GRCh37 |
| NC_000003.10:g.180787034C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429709.7:c.1129C>T MANE Select | ENSP00000397552.2:p.Arg377Trp | |
| ENST00000392662.5:c.1003C>T | ENSP00000376430.1:p.Arg335Trp | |
| ENST00000429709.6:c.1129C>T | ENSP00000397552.2:p.Arg377Trp | |
| ENST00000450518.6:c.1003C>T | ENSP00000394014.2:p.Arg335Trp | |
| ENST00000461125.1:n.65C>T | ||
| ENST00000484312.1:n.160C>T | ||
| NM_004301.4:c.1129C>T | NP_004292.1:p.Arg377Trp | |
| NM_177989.3:c.1003C>T | NP_817126.1:p.Arg335Trp | |
| NM_178042.3:c.1003C>T | NP_829888.1:p.Arg335Trp | |
| NM_004301.5:c.1129C>T MANE Select | NP_004292.1:p.Arg377Trp | |
| NM_177989.4:c.1003C>T | NP_817126.1:p.Arg335Trp | |
| NM_178042.4:c.1003C>T | NP_829888.1:p.Arg335Trp |