Linked Data
ClinVar Variation Id:
372170
ClinVar RCV Id:
RCV000412546
dbSNP Id:
rs1057518738
gnomAD v2:
1-47882294-G-A
PubMed:
PMID:27218149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47416622G>A , CM000663.2:g.47416622G>A | GRCh38 |
| NC_000001.10:g.47882294G>A , CM000663.1:g.47882294G>A | GRCh37 |
| NC_000001.9:g.47654881G>A | NCBI36 |
| NG_016192.1:g.5551G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335071.4:c.307G>A (FOXE3) MANE Select | ENSP00000334472.2:p.Glu103Lys | |
| ENST00000335071.3:c.307G>A (FOXE3) | ENSP00000334472.2:p.Glu103Lys | |
| NM_012186.2:c.307G>A (FOXE3) | NP_036318.1:p.Glu103Lys | |
| NR_126355.1:n.29-6721C>T (LINC01389) | ||
| NM_012186.3:c.307G>A (FOXE3) MANE Select | NP_036318.1:p.Glu103Lys |