Linked Data
ClinVar Variation Id:
2334329
ClinVar RCV Id:
RCV004173109
dbSNP Id:
rs1878104896
gnomAD v4:
13-98176945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.98176945G>A , CM000675.2:g.98176945G>A | GRCh38 |
| NC_000013.10:g.98829199G>A , CM000675.1:g.98829199G>A | GRCh37 |
| NC_000013.9:g.97627200G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267291.7:c.292C>T (RNF113B) MANE Select | ENSP00000267291.6:p.Arg98Cys | |
| ENST00000319562.11:c.-24+33453G>A (FARP1) MANE Select | ENSP00000322926.6:n.-24+33453G>A | |
| ENST00000596580.2:c.-24+33453G>A (FARP1) | ENSP00000490391.1:n.-24+33453G>A | |
| ENST00000267291.6:c.292C>T (RNF113B) | ENSP00000267291.6:p.Arg98Cys | |
| ENST00000319562.10:c.-24+33453G>A (FARP1) | ENSP00000322926.6:n.-24+33453G>A | |
| ENST00000376581.9:c.-24+33453G>A (FARP1) | ENSP00000365765.4:n.-24+33453G>A | |
| ENST00000595437.5:c.-24+34168G>A (FARP1) | ENSP00000471242.1:n.-24+34168G>A | |
| ENST00000600648.1:n.420+17347G>A (FARP1) | ||
| ENST00000627049.2:c.-24+33453G>A (FARP1) | ENSP00000486285.1:n.-24+33453G>A | |
| NM_001001715.3:c.-24+33453G>A (FARP1) | NP_001001715.2:n.-24+33453G>A | |
| NM_001286839.1:c.-24+34168G>A (FARP1) | NP_001273768.1:n.-24+34168G>A | |
| NM_005766.3:c.-24+33453G>A (FARP1) | NP_005757.1:n.-24+33453G>A | |
| NM_178861.4:c.292C>T (RNF113B) | NP_849192.1:p.Arg98Cys | |
| XM_011521046.1:c.-24+33453G>A (FARP1) | XP_011519348.1:n.-24+33453G>A | |
| XM_011521046.2:c.-24+33453G>A (FARP1) | XP_011519348.1:n.-24+33453G>A | |
| XM_017020312.1:c.-24+34168G>A (FARP1) | XP_016875801.1:n.-24+34168G>A | |
| NM_001001715.4:c.-24+33453G>A (FARP1) | NP_001001715.2:n.-24+33453G>A | |
| NM_001286839.2:c.-24+34168G>A (FARP1) | NP_001273768.1:n.-24+34168G>A | |
| NM_005766.4:c.-24+33453G>A (FARP1) MANE Select | NP_005757.1:n.-24+33453G>A | |
| NM_178861.5:c.292C>T (RNF113B) MANE Select | NP_849192.1:p.Arg98Cys |