Linked Data
ClinVar Variation Id:
40302
ClinVar RCV Id:
RCV000033263
dbSNP Id:
rs397514666
gnomAD v4:
3-13875031-C-T
COSMIC:
COSM728142
PubMed:
PMID:21271649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13875031C>T , CM000665.2:g.13875031C>T | GRCh38 |
| NC_000003.11:g.13916528C>T , CM000665.1:g.13916528C>T | GRCh37 |
| NC_000003.10:g.13891529C>T | NCBI36 |
| NG_008088.1:g.10091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.214G>A MANE Select | ENSP00000285018.4:p.Glu72Lys | |
| ENST00000285018.4:c.214G>A | ENSP00000285018.4:p.Glu72Lys | |
| ENST00000489346.1:n.83G>A | ||
| ENST00000497808.1:n.446G>A | ||
| NM_004625.3:c.214G>A | NP_004616.2:p.Glu72Lys | |
| XM_011534090.1:c.13G>A | XP_011532392.1:p.Glu5Lys | |
| XM_011534091.1:c.13G>A | XP_011532393.1:p.Glu5Lys | |
| XM_011534091.2:c.13G>A | XP_011532393.1:p.Glu5Lys | |
| NM_004625.4:c.214G>A MANE Select | NP_004616.2:p.Glu72Lys |