Linked Data
ClinVar Variation Id:
3036362
ClinVar RCV Id:
RCV004550912
dbSNP Id:
rs1957809011
gnomAD v3:
13-27924344-C-T
gnomAD v4:
13-27924344-C-T
MyVariant Identifiers:
chr13:g.28498481C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924344C>T , CM000675.2:g.27924344C>T | GRCh38 |
| NC_000013.10:g.28498481C>T , CM000675.1:g.28498481C>T | GRCh37 |
| NC_000013.9:g.27396481C>T | NCBI36 |
| NG_008183.1:g.9314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.495C>T MANE Select | ENSP00000370421.4:p.Phe165= | |
| ENST00000381033.4:c.495C>T | ENSP00000370421.4:p.Phe165= | |
| NM_000209.3:c.495C>T | NP_000200.1:p.Phe165= | |
| NM_000209.4:c.495C>T MANE Select | NP_000200.1:p.Phe165= |