Linked Data
ClinVar Variation Id:
12426
ClinVar RCV Id:
RCV000013239
RCV000159222
RCV000498333
RCV001254730
RCV001170617
RCV001787387
RCV004549357
dbSNP Id:
rs104894724
ExAC:
19:55665514 G / A
gnomAD v2:
19-55665514-G-A
gnomAD v3:
19-55154146-G-A
gnomAD v4:
19-55154146-G-A
COSMIC:
COSM475295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154146G>A , CM000681.2:g.55154146G>A | GRCh38 |
| NC_000019.9:g.55665514G>A , CM000681.1:g.55665514G>A | GRCh37 |
| NC_000019.8:g.60357326G>A | NCBI36 |
| NG_007866.2:g.8587C>T , LRG_432:g.8587C>T | |
| NG_011829.2:g.93C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.433C>T MANE Select | ENSP00000341838.5:p.Arg145Trp | |
| ENST00000665070.1:c.466C>T | ENSP00000499482.1:p.Arg156Trp | |
| ENST00000344887.9:c.433C>T | ENSP00000341838.5:p.Arg145Trp | |
| ENST00000585806.5:n.432C>T | ||
| ENST00000586669.5:n.441C>T | ||
| ENST00000588882.1:c.358C>T | ENSP00000466729.1:p.Arg120Trp | |
| ENST00000589864.1:n.261C>T | ||
| NM_000363.4:c.433C>T , LRG_432t1:c.433C>T | NP_000354.4:p.Arg145Trp | |
| NM_000363.5:c.433C>T MANE Select | NP_000354.4:p.Arg145Trp |