Linked Data
ClinVar Variation Id:
201128
ClinVar RCV Id:
RCV000182576
RCV000228895
RCV000408878
RCV000776243
RCV001095907
RCV002390460
RCV003407674
RCV003477647
dbSNP Id:
rs141502002
ExAC:
1:55524222 C / T
gnomAD v2:
1-55524222-C-T
gnomAD v3:
1-55058549-C-T
gnomAD v4:
1-55058549-C-T
COSMIC:
COSM910985
PubMed:
PMID:27765764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058549C>T , CM000663.2:g.55058549C>T | GRCh38 |
| NC_000001.10:g.55524222C>T , CM000663.1:g.55524222C>T | GRCh37 |
| NC_000001.9:g.55296810C>T | NCBI36 |
| NG_009061.1:g.24003C>T , LRG_275:g.24003C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.1405C>T | ENSP00000501161.2:p.Arg469Trp | |
| ENST00000710286.1:c.1762C>T | ENSP00000518176.1:p.Arg588Trp | |
| ENST00000673903.1:c.1030C>T | ENSP00000501257.1:p.Arg344Trp | |
| ENST00000673913.1:c.145C>T | ENSP00000501161.1:p.Arg49Trp | |
| ENST00000302118.5:c.1405C>T MANE Select | ENSP00000303208.5:p.Arg469Trp | |
| ENST00000490692.1:n.2129C>T | ||
| NM_174936.3:c.1405C>T , LRG_275t1:c.1405C>T | NP_777596.2:p.Arg469Trp | |
| NR_110451.1:n.1012C>T | ||
| XM_011541193.1:c.526C>T | XP_011539495.1:p.Arg176Trp | |
| NM_174936.4:c.1405C>T MANE Select | NP_777596.2:p.Arg469Trp | |
| NR_110451.2:n.1012C>T |