Linked Data
ClinVar Variation Id:
44040
dbSNP Id:
rs61741195
ExAC:
11:71819718 G / A
gnomAD v2:
11-71819718-G-A
gnomAD v3:
11-72108672-G-A
gnomAD v4:
11-72108672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72108672G>A , CM000673.2:g.72108672G>A | GRCh38 |
| NC_000011.9:g.71819718G>A , CM000673.1:g.71819718G>A | GRCh37 |
| NC_000011.8:g.71497366G>A | NCBI36 |
| NG_021423.1:g.33337G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541899.3:c.524G>A (TOMT) MANE Select | ENSP00000494667.1:p.Arg175Gln | |
| ENST00000541899.2:c.524G>A (TOMT) | ENSP00000494667.1:p.Arg175Gln | |
| ENST00000643715.1:c.*34G>A (LRTOMT) | ENSP00000496019.1:n.*34G>A | |
| ENST00000307198.11:c.623G>A (LRRC51) | ENSP00000305742.7:p.Arg208Gln | |
| ENST00000419228.2:c.*34G>A (LRRC51) | ENSP00000392233.2:n.*34G>A | |
| ENST00000427369.6:c.*342G>A (LRRC51) | ENSP00000409403.2:n.*342G>A | |
| ENST00000435085.5:c.623G>A (LRRC51) | ENSP00000409789.1:p.Arg208Gln | |
| ENST00000439209.5:c.*34G>A (LRRC51) | ENSP00000395139.1:n.*34G>A | |
| ENST00000502597.2:c.64-1067C>T (ANAPC15) | ENSP00000441774.1:n.64-1067C>T | |
| ENST00000543050.5:c.319-1067C>T (ANAPC15) | ENSP00000437360.1:n.319-1067C>T | |
| ENST00000544409.5:c.*342G>A (LRRC51) | ENSP00000440969.1:n.*342G>A | |
| NM_001145308.4:c.623G>A (LRTOMT) | NP_001138780.1:p.Arg208Gln | |
| NM_001145309.3:c.623G>A (LRTOMT) | NP_001138781.1:p.Arg208Gln | |
| NM_001145310.3:c.503G>A (LRTOMT) | NP_001138782.1:p.Arg168Gln | |
| XM_011544849.1:c.848G>A (LRTOMT) | XP_011543151.1:p.Arg283Gln | |
| NM_001330321.1:c.319-1067C>T (ANAPC15) | NP_001317250.1:n.319-1067C>T | |
| XM_024448401.1:c.848G>A (LRTOMT) | XP_024304169.1:p.Arg283Gln | |
| NM_001145308.5:c.623G>A (LRTOMT) | NP_001138780.1:p.Arg208Gln | |
| NM_001145309.4:c.623G>A (LRTOMT) | NP_001138781.1:p.Arg208Gln | |
| NM_001145310.4:c.503G>A (LRTOMT) | NP_001138782.1:p.Arg168Gln | |
| NM_001330321.2:c.319-1067C>T (ANAPC15) | NP_001317250.1:n.319-1067C>T | |
| NM_001393427.1:c.319-1067C>T (ANAPC15) | NP_001380356.1:n.319-1067C>T | |
| NM_001393428.1:c.319-1067C>T (ANAPC15) | NP_001380357.1:n.319-1067C>T | |
| NM_001393429.1:c.319-1067C>T (ANAPC15) | NP_001380358.1:n.319-1067C>T | |
| NM_001393430.1:c.319-1067C>T (ANAPC15) | NP_001380359.1:n.319-1067C>T | |
| NM_001393431.1:c.319-1067C>T (ANAPC15) | NP_001380360.1:n.319-1067C>T | |
| NM_001393443.1:c.*147C>T (ANAPC15) | NP_001380372.1:n.*147C>T | |
| NM_001393444.1:c.*147C>T (ANAPC15) | NP_001380373.1:n.*147C>T | |
| NM_001393445.1:c.*147C>T (ANAPC15) | NP_001380374.1:n.*147C>T | |
| NM_001393459.1:c.64-1067C>T (ANAPC15) | NP_001380388.1:n.64-1067C>T | |
| NM_001393500.1:c.524G>A (TOMT) | NP_001380429.1:p.Arg175Gln | |
| NR_171687.1:n.771C>T (ANAPC15) | ||
| NM_001393500.2:c.524G>A (TOMT) MANE Select | NP_001380429.1:p.Arg175Gln |