Linked Data
ClinVar Variation Id:
786709
ClinVar RCV Id:
RCV000968809
dbSNP Id:
rs187005190
ExAC:
X:106144042 G / A
gnomAD v2:
X-106144042-G-A
gnomAD v3:
X-106900812-G-A
gnomAD v4:
X-106900812-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106900812G>A , CM000685.2:g.106900812G>A | GRCh38 |
| NC_000023.10:g.106144042G>A , CM000685.1:g.106144042G>A | GRCh37 |
| NC_000023.9:g.106030698G>A | NCBI36 |
| NG_016445.1:g.5649G>A | |
| NG_022934.1:g.7520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276173.5:c.393C>T (RIPPLY1) MANE Select | ENSP00000276173.4:p.Tyr131= | |
| ENST00000541806.6:c.-179+308G>A (CLDN2) | ENSP00000441283.1:n.-179+308G>A | |
| ENST00000276173.4:c.393C>T (RIPPLY1) | ENSP00000276173.4:p.Tyr131= | |
| ENST00000411805.1:c.252C>T (RIPPLY1) | ENSP00000400539.1:p.Tyr84= | |
| ENST00000541806.5:c.-179+308G>A (CLDN2) | ENSP00000441283.1:n.-179+308G>A | |
| ENST00000604604.1:c.112-85026C>T (MORC4) | ||
| NM_001171092.1:c.-179+308G>A (CLDN2) | NP_001164563.1:n.-179+308G>A | |
| NM_001171706.1:c.252C>T (RIPPLY1) | NP_001165177.1:p.Tyr84= | |
| NM_138382.2:c.393C>T (RIPPLY1) | NP_612391.1:p.Tyr131= | |
| NM_138382.3:c.393C>T (RIPPLY1) MANE Select | NP_612391.1:p.Tyr131= | |
| NM_001171706.2:c.252C>T (RIPPLY1) | NP_001165177.1:p.Tyr84= |