Linked Data
ClinVar Variation Id:
376505
ClinVar RCV Id:
RCV000417519
RCV000418364
RCV000425096
RCV000425789
RCV000431282
RCV000435193
RCV000436040
RCV000441538
RCV000443336
RCV000761600
RCV003318575
dbSNP Id:
rs1057519946
COSMIC:
COSM51211
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212729C>T , CM000681.2:g.52212729C>T | GRCh38 |
| NC_000019.9:g.52715982C>T , CM000681.1:g.52715982C>T | GRCh37 |
| NC_000019.8:g.57407794C>T | NCBI36 |
| NG_047068.1:g.27928C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454220.7:c.667C>T | ENSP00000391905.3:p.Arg223Trp | |
| ENST00000703395.1:c.10C>T | ENSP00000515286.1:p.Arg4Trp | |
| ENST00000703396.1:n.491C>T | ||
| ENST00000703397.1:c.10C>T | ENSP00000515287.1:p.Arg4Trp | |
| ENST00000703398.1:c.589C>T | ENSP00000515288.1:p.Arg197Trp | |
| ENST00000703421.1:n.700C>T | ||
| ENST00000703422.1:c.523C>T | ENSP00000515292.1:p.Arg175Trp | |
| ENST00000703423.1:c.10C>T | ENSP00000515293.1:p.Arg4Trp | |
| ENST00000322088.11:c.547C>T MANE Select | ENSP00000324804.6:p.Arg183Trp | |
| ENST00000322088.10:c.547C>T | ENSP00000324804.6:p.Arg183Trp | |
| ENST00000454220.6:c.667C>T | ENSP00000391905.2:p.Arg223Trp | |
| ENST00000462047.1:n.238C>T | ||
| ENST00000462990.5:c.10C>T | ENSP00000470504.1:p.Arg4Trp | |
| NM_014225.5:c.547C>T | NP_055040.2:p.Arg183Trp | |
| NR_033500.1:n.741C>T | ||
| NM_001363656.1:c.10C>T | NP_001350585.1:p.Arg4Trp | |
| NM_014225.6:c.547C>T MANE Select | NP_055040.2:p.Arg183Trp | |
| NM_001363656.2:c.10C>T | NP_001350585.1:p.Arg4Trp | |
| NR_033500.2:n.491C>T |