Linked Data
ClinVar Variation Id:
39504
dbSNP Id:
rs141431913
ExAC:
4:108871406 C / T
gnomAD v2:
4-108871406-C-T
gnomAD v3:
4-107950250-C-T
gnomAD v4:
4-107950250-C-T
PubMed:
PMID:23176821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107950250C>T , CM000666.2:g.107950250C>T | GRCh38 |
| NC_000004.11:g.108871406C>T , CM000666.1:g.108871406C>T | GRCh37 |
| NC_000004.10:g.109090855C>T | NCBI36 |
| NG_007961.1:g.23690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332884.11:c.1462C>T MANE Select | ENSP00000333212.6:p.Arg488Trp | |
| ENST00000332884.10:c.1462C>T | ENSP00000333212.6:p.Arg488Trp | |
| ENST00000508453.1:c.835C>T | ENSP00000423667.1:p.Arg279Trp | |
| NM_183075.2:c.1462C>T | NP_898898.1:p.Arg488Trp | |
| XM_005262717.2:c.1516C>T | XP_005262774.1:p.Arg506Trp | |
| XM_005262720.2:c.826C>T | XP_005262777.1:p.Arg276Trp | |
| XR_001741783.1:n.155+39318G>A | ||
| XR_001741784.1:n.530+28470G>A | ||
| NM_183075.3:c.1462C>T MANE Select | NP_898898.1:p.Arg488Trp |