Linked Data
ClinVar Variation Id:
161769
ClinVar RCV Id:
RCV000149305
dbSNP Id:
rs193921115
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.48727942T>C , CM000663.2:g.48727942T>C | GRCh38 |
| NC_000001.10:g.49193614T>C , CM000663.1:g.49193614T>C | GRCh37 |
| NC_000001.9:g.48966201T>C | NCBI36 |
| NG_053063.1:g.55662A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371833.4:c.1210A>G (BEND5) MANE Select | ENSP00000360899.3:p.Ile404Val | |
| ENST00000371839.6:c.635-64701A>G (AGBL4) MANE Select | ENSP00000360905.1:n.635-64701A>G | |
| ENST00000371833.3:c.1210A>G (BEND5) | ENSP00000360899.3:p.Ile404Val | |
| ENST00000371838.5:c.635-64701A>G (AGBL4) | ENSP00000360904.1:n.635-64701A>G | |
| ENST00000371839.5:c.635-64701A>G (AGBL4) | ENSP00000360905.1:n.635-64701A>G | |
| ENST00000416121.5:c.172-64701A>G (AGBL4) | ||
| ENST00000463562.1:n.1393A>G (BEND5) | ||
| ENST00000476079.5:n.350A>G (BEND5) | ||
| ENST00000476096.1:n.458A>G (BEND5) | ||
| NM_001302082.1:c.703A>G (BEND5) | NP_001289011.1:p.Ile235Val | |
| NM_024603.3:c.1210A>G (BEND5) | NP_078879.2:p.Ile404Val | |
| NM_032785.3:c.635-64701A>G (AGBL4) | NP_116174.3:n.635-64701A>G | |
| XM_006710895.2:c.1048A>G (BEND5) | XP_006710958.1:p.Ile350Val | |
| XM_006710897.2:c.703A>G (BEND5) | XP_006710960.1:p.Ile235Val | |
| XM_006710986.2:c.635-64701A>G (AGBL4) | XP_006711049.1:n.635-64701A>G | |
| XM_011542141.1:c.955A>G (BEND5) | XP_011540443.1:p.Ile319Val | |
| XM_011542142.1:c.703A>G (BEND5) | XP_011540444.1:p.Ile235Val | |
| XM_011542308.1:c.671-64701A>G (AGBL4) | XP_011540610.1:n.671-64701A>G | |
| XM_011542309.1:c.671-64701A>G (AGBL4) | XP_011540611.1:n.671-64701A>G | |
| NM_001323573.1:c.671-64701A>G (AGBL4) | NP_001310502.1:n.671-64701A>G | |
| NM_001323574.1:c.671-64701A>G (AGBL4) | NP_001310503.1:n.671-64701A>G | |
| NM_001323575.1:c.635-64701A>G (AGBL4) | NP_001310504.1:n.635-64701A>G | |
| NM_001349793.1:c.703A>G (BEND5) | NP_001336722.1:p.Ile235Val | |
| NM_001349794.1:c.703A>G (BEND5) | NP_001336723.1:p.Ile235Val | |
| NM_001349795.1:c.955A>G (BEND5) | NP_001336724.1:p.Ile319Val | |
| NR_136623.1:n.668-38039A>G (AGBL4) | ||
| NR_146232.1:n.1281A>G (BEND5) | ||
| XM_011542141.3:c.955A>G (BEND5) | XP_011540443.1:p.Ile319Val | |
| XM_011542142.2:c.703A>G (BEND5) | XP_011540444.1:p.Ile235Val | |
| XM_011542308.2:c.671-64701A>G (AGBL4) | XP_011540610.1:n.671-64701A>G | |
| XM_017002331.1:c.1048A>G (BEND5) | XP_016857820.1:p.Ile350Val | |
| XM_017002595.2:c.635-64701A>G (AGBL4) | XP_016858084.1:n.635-64701A>G | |
| XM_017002596.2:c.635-64701A>G (AGBL4) | XP_016858085.1:n.635-64701A>G | |
| XM_017002597.2:c.635-64701A>G (AGBL4) | XP_016858086.1:n.635-64701A>G | |
| XR_001737408.2:n.1719A>G (BEND5) | ||
| NM_024603.4:c.1210A>G (BEND5) MANE Select | NP_078879.2:p.Ile404Val | |
| NM_032785.4:c.635-64701A>G (AGBL4) MANE Select | NP_116174.3:n.635-64701A>G | |
| NM_001323573.2:c.671-64701A>G (AGBL4) | NP_001310502.1:n.671-64701A>G | |
| NM_001323574.2:c.671-64701A>G (AGBL4) | NP_001310503.1:n.671-64701A>G | |
| NM_001323575.2:c.635-64701A>G (AGBL4) | NP_001310504.1:n.635-64701A>G | |
| NR_136623.2:n.668-38039A>G (AGBL4) | ||
| NM_001302082.2:c.703A>G (BEND5) | NP_001289011.1:p.Ile235Val | |
| NM_001349793.2:c.703A>G (BEND5) | NP_001336722.1:p.Ile235Val | |
| NM_001349794.2:c.703A>G (BEND5) | NP_001336723.1:p.Ile235Val | |
| NM_001349795.2:c.955A>G (BEND5) | NP_001336724.1:p.Ile319Val | |
| NR_146232.2:n.1203A>G (BEND5) |