Linked Data
ClinVar Variation Id:
228421
dbSNP Id:
rs143008553
ExAC:
16:2369616 C / T
gnomAD v2:
16-2369616-C-T
gnomAD v3:
16-2319615-C-T
gnomAD v4:
16-2319615-C-T
MyVariant Identifiers:
chr16:g.2369616C>T (hg19)
chr16:g.2369616_2369617delinsTG (hg19)
chr16:g.2319615C>T (hg38)
chr16:g.2319615_2319616delinsTG (hg38)
PubMed:
PMID:20656946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2319615C>T , CM000678.2:g.2319615C>T | GRCh38 |
| NC_000016.9:g.2369616C>T , CM000678.1:g.2369616C>T | GRCh37 |
| NC_000016.8:g.2309617C>T | NCBI36 |
| NG_011790.1:g.26132G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.839G>A MANE Select | ENSP00000301732.5:p.Arg280His | |
| ENST00000301732.9:c.839G>A | ENSP00000301732.5:p.Arg280His | |
| ENST00000382381.7:c.839G>A | ENSP00000371818.3:p.Arg280His | |
| ENST00000563623.5:n.1402G>A | ||
| NM_001089.2:c.839G>A | NP_001080.2:p.Arg280His | |
| NM_001089.3:c.839G>A MANE Select | NP_001080.2:p.Arg280His |