Linked Data
dbSNP Id:
rs2108270482
gnomAD v4:
3-170483457-C-T
MyVariant Identifiers:
chr3:g.170201246C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170483457C>T , CM000665.2:g.170483457C>T | GRCh38 |
| NC_000003.11:g.170201246C>T , CM000665.1:g.170201246C>T | GRCh37 |
| NC_000003.10:g.171683940C>T | NCBI36 |
| NG_034121.1:g.107618G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231706.6:c.972G>A (SLC7A14) MANE Select | ENSP00000231706.4:p.Glu324= | |
| ENST00000231706.5:c.972G>A (SLC7A14) | ENSP00000231706.4:p.Glu324= | |
| ENST00000471373.5:n.373-19354C>T (CLDN11) | ||
| ENST00000480067.1:n.218+6584C>T (CLDN11) | ||
| ENST00000486975.1:c.391+60130C>T (CLDN11) | ENSP00000417434.1:n.391+60130C>T | |
| NM_020949.2:c.972G>A (SLC7A14) | NP_066000.2:p.Glu324= | |
| XM_011513058.1:c.45G>A (SLC7A14) | XP_011511360.1:p.Glu15= | |
| NR_135555.1:n.215+6584C>T (SLC7A14-AS1) | ||
| NR_135556.1:n.215+6584C>T (SLC7A14-AS1) | ||
| NR_135557.1:n.221+6584C>T (SLC7A14-AS1) | ||
| NM_020949.3:c.972G>A (SLC7A14) MANE Select | NP_066000.2:p.Glu324= |