Linked Data
ClinVar Variation Id:
3166376
ClinVar RCV Id:
RCV004459777
dbSNP Id:
rs202034783
gnomAD v2:
10-112361532-C-T
gnomAD v4:
10-110601774-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601774C>T , CM000672.2:g.110601774C>T | GRCh38 |
| NC_000010.10:g.112361532C>T , CM000672.1:g.112361532C>T | GRCh37 |
| NC_000010.9:g.112351522C>T | NCBI36 |
| NG_012217.1:g.39084C>T , LRG_774:g.39084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5015C>T | ||
| ENST00000685743.1:n.2490C>T | ||
| ENST00000686057.1:n.1133C>T | ||
| ENST00000689321.1:n.1745C>T | ||
| ENST00000689986.1:n.571C>T | ||
| ENST00000361804.5:c.2782C>T MANE Select | ENSP00000354720.5:p.Arg928Trp | |
| ENST00000361804.4:c.2782C>T | ENSP00000354720.4:p.Arg928Trp | |
| NM_005445.3:c.2782C>T , LRG_774t1:c.2782C>T | NP_005436.1:p.Arg928Trp | |
| NM_005445.4:c.2782C>T MANE Select | NP_005436.1:p.Arg928Trp |