Linked Data
ClinVar Variation Id:
2312634
ClinVar RCV Id:
RCV004160612
dbSNP Id:
rs775667071
ExAC:
X:106144127 G / A
gnomAD v2:
X-106144127-G-A
gnomAD v4:
X-106900897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106900897G>A , CM000685.2:g.106900897G>A | GRCh38 |
| NC_000023.10:g.106144127G>A , CM000685.1:g.106144127G>A | GRCh37 |
| NC_000023.9:g.106030783G>A | NCBI36 |
| NG_016445.1:g.5734G>A | |
| NG_022934.1:g.7435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276173.5:c.308C>T (RIPPLY1) MANE Select | ENSP00000276173.4:p.Pro103Leu | |
| ENST00000541806.6:c.-179+393G>A (CLDN2) | ENSP00000441283.1:n.-179+393G>A | |
| ENST00000276173.4:c.308C>T (RIPPLY1) | ENSP00000276173.4:p.Pro103Leu | |
| ENST00000411805.1:c.167C>T (RIPPLY1) | ENSP00000400539.1:p.Pro56Leu | |
| ENST00000541806.5:c.-179+393G>A (CLDN2) | ENSP00000441283.1:n.-179+393G>A | |
| ENST00000604604.1:c.112-85111C>T (MORC4) | ||
| NM_001171092.1:c.-179+393G>A (CLDN2) | NP_001164563.1:n.-179+393G>A | |
| NM_001171706.1:c.167C>T (RIPPLY1) | NP_001165177.1:p.Pro56Leu | |
| NM_138382.2:c.308C>T (RIPPLY1) | NP_612391.1:p.Pro103Leu | |
| NM_138382.3:c.308C>T (RIPPLY1) MANE Select | NP_612391.1:p.Pro103Leu | |
| NM_001171706.2:c.167C>T (RIPPLY1) | NP_001165177.1:p.Pro56Leu |