Linked Data
ClinVar Variation Id:
425
dbSNP Id:
rs121918555
ExAC:
20:57599434 C / T
gnomAD v2:
20-57599434-C-T
gnomAD v3:
20-59024379-C-T
gnomAD v4:
20-59024379-C-T
COSMIC:
COSM3732334
MyVariant Identifiers:
chr20:g.57599434C>T (hg19)
chr20:g.57599434_57599436delinsTGG (hg19)
chr20:g.59024379C>T (hg38)
chr20:g.59024379_59024381delinsTGG (hg38)
PubMed:
PMID:18849486
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024379C>T , CM000682.2:g.59024379C>T | GRCh38 |
| NC_000020.10:g.57599434C>T , CM000682.1:g.57599434C>T | GRCh37 |
| NC_000020.9:g.57032829C>T | NCBI36 |
| NG_023424.2:g.10126C>T , LRG_581:g.10126C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217133.2:c.952C>T MANE Select | ENSP00000217133.1:p.Arg318Trp | |
| ENST00000217133.1:c.952C>T | ENSP00000217133.1:p.Arg318Trp | |
| NM_030773.3:c.952C>T , LRG_581t1:c.952C>T | NP_110400.1:p.Arg318Trp | |
| XM_017028085.1:c.886C>T | XP_016883574.1:p.Arg296Trp | |
| NM_030773.4:c.952C>T MANE Select | NP_110400.1:p.Arg318Trp |