Linked Data
dbSNP Id:
rs78025997
ExAC:
3:190039981 C / A
gnomAD v2:
3-190039981-C-A
gnomAD v4:
3-190322192-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322192C>A , CM000665.2:g.190322192C>A | GRCh38 |
| NC_000003.11:g.190039981C>A , CM000665.1:g.190039981C>A | GRCh37 |
| NC_000003.10:g.191522675C>A | NCBI36 |
| NG_021418.1:g.5255G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.15G>T (CLDN1) MANE Select | ENSP00000295522.3:p.Gly5= | |
| ENST00000295522.3:c.15G>T (CLDN1) | ENSP00000295522.3:p.Gly5= | |
| NM_021101.4:c.15G>T (CLDN1) | NP_066924.1:p.Gly5= | |
| NM_021101.5:c.15G>T (CLDN1) MANE Select | NP_066924.1:p.Gly5= | |
| NM_001378492.1:c.-279+7133C>A (CLDN16) | NP_001365421.1:n.-279+7133C>A | |
| NM_001378493.1:c.-279+31601C>A (CLDN16) | NP_001365422.1:n.-279+31601C>A |