Linked Data
ClinVar Variation Id:
2266074
ClinVar RCV Id:
RCV004116799
dbSNP Id:
rs377323551
ExAC:
13:98828604 G / A
gnomAD v2:
13-98828604-G-A
gnomAD v3:
13-98176350-G-A
gnomAD v4:
13-98176350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.98176350G>A , CM000675.2:g.98176350G>A | GRCh38 |
| NC_000013.10:g.98828604G>A , CM000675.1:g.98828604G>A | GRCh37 |
| NC_000013.9:g.97626605G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267291.7:c.887C>T (RNF113B) MANE Select | ENSP00000267291.6:p.Pro296Leu | |
| ENST00000319562.11:c.-24+32858G>A (FARP1) MANE Select | ENSP00000322926.6:n.-24+32858G>A | |
| ENST00000596580.2:c.-24+32858G>A (FARP1) | ENSP00000490391.1:n.-24+32858G>A | |
| ENST00000267291.6:c.887C>T (RNF113B) | ENSP00000267291.6:p.Pro296Leu | |
| ENST00000319562.10:c.-24+32858G>A (FARP1) | ENSP00000322926.6:n.-24+32858G>A | |
| ENST00000376581.9:c.-24+32858G>A (FARP1) | ENSP00000365765.4:n.-24+32858G>A | |
| ENST00000595437.5:c.-24+33573G>A (FARP1) | ENSP00000471242.1:n.-24+33573G>A | |
| ENST00000600648.1:n.420+16752G>A (FARP1) | ||
| ENST00000627049.2:c.-24+32858G>A (FARP1) | ENSP00000486285.1:n.-24+32858G>A | |
| NM_001001715.3:c.-24+32858G>A (FARP1) | NP_001001715.2:n.-24+32858G>A | |
| NM_001286839.1:c.-24+33573G>A (FARP1) | NP_001273768.1:n.-24+33573G>A | |
| NM_005766.3:c.-24+32858G>A (FARP1) | NP_005757.1:n.-24+32858G>A | |
| NM_178861.4:c.887C>T (RNF113B) | NP_849192.1:p.Pro296Leu | |
| XM_011521046.1:c.-24+32858G>A (FARP1) | XP_011519348.1:n.-24+32858G>A | |
| XM_011521046.2:c.-24+32858G>A (FARP1) | XP_011519348.1:n.-24+32858G>A | |
| XM_017020312.1:c.-24+33573G>A (FARP1) | XP_016875801.1:n.-24+33573G>A | |
| NM_001001715.4:c.-24+32858G>A (FARP1) | NP_001001715.2:n.-24+32858G>A | |
| NM_001286839.2:c.-24+33573G>A (FARP1) | NP_001273768.1:n.-24+33573G>A | |
| NM_005766.4:c.-24+32858G>A (FARP1) MANE Select | NP_005757.1:n.-24+32858G>A | |
| NM_178861.5:c.887C>T (RNF113B) MANE Select | NP_849192.1:p.Pro296Leu |