Linked Data
dbSNP Id:
rs759609005
ExAC:
3:170201181 A / G
gnomAD v2:
3-170201181-A-G
gnomAD v4:
3-170483392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170483392A>G , CM000665.2:g.170483392A>G | GRCh38 |
| NC_000003.11:g.170201181A>G , CM000665.1:g.170201181A>G | GRCh37 |
| NC_000003.10:g.171683875A>G | NCBI36 |
| NG_034121.1:g.107683T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231706.6:c.1037T>C (SLC7A14) MANE Select | ENSP00000231706.4:p.Leu346Pro | |
| ENST00000231706.5:c.1037T>C (SLC7A14) | ENSP00000231706.4:p.Leu346Pro | |
| ENST00000471373.5:n.373-19419A>G (CLDN11) | ||
| ENST00000480067.1:n.218+6519A>G (CLDN11) | ||
| ENST00000486975.1:c.391+60065A>G (CLDN11) | ENSP00000417434.1:n.391+60065A>G | |
| NM_020949.2:c.1037T>C (SLC7A14) | NP_066000.2:p.Leu346Pro | |
| XM_011513058.1:c.110T>C (SLC7A14) | XP_011511360.1:p.Leu37Pro | |
| NR_135555.1:n.215+6519A>G (SLC7A14-AS1) | ||
| NR_135556.1:n.215+6519A>G (SLC7A14-AS1) | ||
| NR_135557.1:n.221+6519A>G (SLC7A14-AS1) | ||
| NM_020949.3:c.1037T>C (SLC7A14) MANE Select | NP_066000.2:p.Leu346Pro |