Linked Data
dbSNP Id:
rs751558313
ExAC:
3:190039893 A / G
gnomAD v2:
3-190039893-A-G
gnomAD v4:
3-190322104-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322104A>G , CM000665.2:g.190322104A>G | GRCh38 |
| NC_000003.11:g.190039893A>G , CM000665.1:g.190039893A>G | GRCh37 |
| NC_000003.10:g.191522587A>G | NCBI36 |
| NG_021418.1:g.5343T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.103T>C (CLDN1) MANE Select | ENSP00000295522.3:p.Tyr35His | |
| ENST00000295522.3:c.103T>C (CLDN1) | ENSP00000295522.3:p.Tyr35His | |
| NM_021101.4:c.103T>C (CLDN1) | NP_066924.1:p.Tyr35His | |
| NM_021101.5:c.103T>C (CLDN1) MANE Select | NP_066924.1:p.Tyr35His | |
| NM_001378492.1:c.-279+7045A>G (CLDN16) | NP_001365421.1:n.-279+7045A>G | |
| NM_001378493.1:c.-279+31513A>G (CLDN16) | NP_001365422.1:n.-279+31513A>G |