Linked Data
dbSNP Id:
rs770135616
ExAC:
3:170201168 C / A
gnomAD v2:
3-170201168-C-A
gnomAD v4:
3-170483379-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170483379C>A , CM000665.2:g.170483379C>A | GRCh38 |
| NC_000003.11:g.170201168C>A , CM000665.1:g.170201168C>A | GRCh37 |
| NC_000003.10:g.171683862C>A | NCBI36 |
| NG_034121.1:g.107696G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231706.6:c.1050G>T (SLC7A14) MANE Select | ENSP00000231706.4:p.Leu350Phe | |
| ENST00000231706.5:c.1050G>T (SLC7A14) | ENSP00000231706.4:p.Leu350Phe | |
| ENST00000471373.5:n.373-19432C>A (CLDN11) | ||
| ENST00000480067.1:n.218+6506C>A (CLDN11) | ||
| ENST00000486975.1:c.391+60052C>A (CLDN11) | ENSP00000417434.1:n.391+60052C>A | |
| NM_020949.2:c.1050G>T (SLC7A14) | NP_066000.2:p.Leu350Phe | |
| XM_011513058.1:c.123G>T (SLC7A14) | XP_011511360.1:p.Leu41Phe | |
| NR_135555.1:n.215+6506C>A (SLC7A14-AS1) | ||
| NR_135556.1:n.215+6506C>A (SLC7A14-AS1) | ||
| NR_135557.1:n.221+6506C>A (SLC7A14-AS1) | ||
| NM_020949.3:c.1050G>T (SLC7A14) MANE Select | NP_066000.2:p.Leu350Phe |