Linked Data
ClinVar Variation Id:
38328
dbSNP Id:
rs281864914
ExAC:
5:151239523 C / T
gnomAD v2:
5-151239523-C-T
gnomAD v3:
5-151859962-C-T
gnomAD v4:
5-151859962-C-T
COSMIC:
COSM1162701
MyVariant Identifiers:
chr5:g.151239523C>T (hg19)
chr5:g.151239523_151239524delinsTG (hg19)
chr5:g.151859962C>T (hg38)
chr5:g.151859962_151859963delinsTG (hg38)
PubMed:
PMID:20301437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151859962C>T , CM000667.2:g.151859962C>T | GRCh38 |
| NC_000005.9:g.151239523C>T , CM000667.1:g.151239523C>T | GRCh37 |
| NC_000005.8:g.151219716C>T | NCBI36 |
| NG_011764.1:g.69875G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.299G>A MANE Select | ENSP00000274576.5:p.Arg100His | |
| ENST00000274576.8:c.299G>A | ENSP00000274576.4:p.Arg100His | |
| ENST00000455880.2:c.299G>A | ENSP00000411593.2:p.Arg100His | |
| ENST00000462581.6:c.*57G>A | ENSP00000430595.1:n.*57G>A | |
| ENST00000471351.2:n.582G>A | ||
| NM_000171.3:c.299G>A | NP_000162.2:p.Arg100His | |
| NM_001146040.1:c.299G>A | NP_001139512.1:p.Arg100His | |
| NM_001292000.1:c.50G>A | NP_001278929.1:p.Arg17His | |
| XM_005268412.2:c.299G>A | XP_005268469.1:p.Arg100His | |
| XR_002956230.1:n.229+2069C>T | ||
| NM_000171.4:c.299G>A MANE Select | NP_000162.2:p.Arg100His | |
| NM_001146040.2:c.299G>A | NP_001139512.1:p.Arg100His | |
| NM_001292000.2:c.50G>A | NP_001278929.1:p.Arg17His |