Linked Data
dbSNP Id:
rs768137462
ExAC:
3:190039898 T / C
gnomAD v2:
3-190039898-T-C
gnomAD v4:
3-190322109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322109T>C , CM000665.2:g.190322109T>C | GRCh38 |
| NC_000003.11:g.190039898T>C , CM000665.1:g.190039898T>C | GRCh37 |
| NC_000003.10:g.191522592T>C | NCBI36 |
| NG_021418.1:g.5338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.98A>G (CLDN1) MANE Select | ENSP00000295522.3:p.Tyr33Cys | |
| ENST00000295522.3:c.98A>G (CLDN1) | ENSP00000295522.3:p.Tyr33Cys | |
| NM_021101.4:c.98A>G (CLDN1) | NP_066924.1:p.Tyr33Cys | |
| NM_021101.5:c.98A>G (CLDN1) MANE Select | NP_066924.1:p.Tyr33Cys | |
| NM_001378492.1:c.-279+7050T>C (CLDN16) | NP_001365421.1:n.-279+7050T>C | |
| NM_001378493.1:c.-279+31518T>C (CLDN16) | NP_001365422.1:n.-279+31518T>C |