Linked Data
ClinVar Variation Id:
3154704
ClinVar RCV Id:
RCV004454052
dbSNP Id:
rs375066387
ExAC:
X:106144023 C / T
gnomAD v2:
X-106144023-C-T
gnomAD v3:
X-106900793-C-T
gnomAD v4:
X-106900793-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106900793C>T , CM000685.2:g.106900793C>T | GRCh38 |
| NC_000023.10:g.106144023C>T , CM000685.1:g.106144023C>T | GRCh37 |
| NC_000023.9:g.106030679C>T | NCBI36 |
| NG_016445.1:g.5630C>T | |
| NG_022934.1:g.7539G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276173.5:c.412G>A (RIPPLY1) MANE Select | ENSP00000276173.4:p.Glu138Lys | |
| ENST00000541806.6:c.-179+289C>T (CLDN2) | ENSP00000441283.1:n.-179+289C>T | |
| ENST00000276173.4:c.412G>A (RIPPLY1) | ENSP00000276173.4:p.Glu138Lys | |
| ENST00000411805.1:c.271G>A (RIPPLY1) | ENSP00000400539.1:p.Glu91Lys | |
| ENST00000541806.5:c.-179+289C>T (CLDN2) | ENSP00000441283.1:n.-179+289C>T | |
| ENST00000604604.1:c.112-85007G>A (MORC4) | ||
| NM_001171092.1:c.-179+289C>T (CLDN2) | NP_001164563.1:n.-179+289C>T | |
| NM_001171706.1:c.271G>A (RIPPLY1) | NP_001165177.1:p.Glu91Lys | |
| NM_138382.2:c.412G>A (RIPPLY1) | NP_612391.1:p.Glu138Lys | |
| NM_138382.3:c.412G>A (RIPPLY1) MANE Select | NP_612391.1:p.Glu138Lys | |
| NM_001171706.2:c.271G>A (RIPPLY1) | NP_001165177.1:p.Glu91Lys |