Linked Data
ClinVar Variation Id:
126447
ClinVar RCV Id:
RCV000114375
dbSNP Id:
rs587777272
PubMed:
PMID:24670872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170467249A>C , CM000665.2:g.170467249A>C | GRCh38 |
| NC_000003.11:g.170185037A>C , CM000665.1:g.170185037A>C | GRCh37 |
| NC_000003.10:g.171667731A>C | NCBI36 |
| NG_034121.1:g.123826T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231706.6:c.2122T>G (SLC7A14) MANE Select | ENSP00000231706.4:p.Phe708Val | |
| ENST00000231706.5:c.2122T>G (SLC7A14) | ENSP00000231706.4:p.Phe708Val | |
| ENST00000471373.5:n.372+6837A>C (CLDN11) | ||
| ENST00000486975.1:c.391+43922A>C (CLDN11) | ENSP00000417434.1:n.391+43922A>C | |
| NM_020949.2:c.2122T>G (SLC7A14) | NP_066000.2:p.Phe708Val | |
| XM_011513058.1:c.1195T>G (SLC7A14) | XP_011511360.1:p.Phe399Val | |
| NM_020949.3:c.2122T>G (SLC7A14) MANE Select | NP_066000.2:p.Phe708Val |