Linked Data
dbSNP Id:
rs778904459
ExAC:
10:112361901 C / T
gnomAD v2:
10-112361901-C-T
gnomAD v3:
10-110602143-C-T
gnomAD v4:
10-110602143-C-T
COSMIC:
COSM914748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602143C>T , CM000672.2:g.110602143C>T | GRCh38 |
| NC_000010.10:g.112361901C>T , CM000672.1:g.112361901C>T | GRCh37 |
| NC_000010.9:g.112351891C>T | NCBI36 |
| NG_012217.1:g.39453C>T , LRG_774:g.39453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5303C>T | ||
| ENST00000685743.1:n.2778C>T | ||
| ENST00000686057.1:n.1421C>T | ||
| ENST00000689321.1:n.2033C>T | ||
| ENST00000689986.1:n.859C>T | ||
| ENST00000361804.5:c.3070C>T MANE Select | ENSP00000354720.5:p.Arg1024Trp | |
| ENST00000361804.4:c.3070C>T | ENSP00000354720.4:p.Arg1024Trp | |
| NM_005445.3:c.3070C>T , LRG_774t1:c.3070C>T | NP_005436.1:p.Arg1024Trp | |
| NM_005445.4:c.3070C>T MANE Select | NP_005436.1:p.Arg1024Trp |