Linked Data
ClinVar Variation Id:
126449
ClinVar RCV Id:
RCV000114377
dbSNP Id:
rs587777273
PubMed:
PMID:24670872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170501255G>A , CM000665.2:g.170501255G>A | GRCh38 |
| NC_000003.11:g.170219044G>A , CM000665.1:g.170219044G>A | GRCh37 |
| NC_000003.10:g.171701738G>A | NCBI36 |
| NG_034121.1:g.89820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231706.6:c.395C>T (SLC7A14) MANE Select | ENSP00000231706.4:p.Ala132Val | |
| ENST00000231706.5:c.395C>T (SLC7A14) | ENSP00000231706.4:p.Ala132Val | |
| ENST00000471373.5:n.373-1556G>A (CLDN11) | ||
| ENST00000480067.1:n.218+24382G>A (CLDN11) | ||
| ENST00000486975.1:c.391+77928G>A (CLDN11) | ENSP00000417434.1:n.391+77928G>A | |
| NM_020949.2:c.395C>T (SLC7A14) | NP_066000.2:p.Ala132Val | |
| NR_135555.1:n.215+24382G>A (SLC7A14-AS1) | ||
| NR_135556.1:n.215+24382G>A (SLC7A14-AS1) | ||
| NR_135557.1:n.222-1556G>A (SLC7A14-AS1) | ||
| NM_020949.3:c.395C>T (SLC7A14) MANE Select | NP_066000.2:p.Ala132Val |