Linked Data
ClinVar Variation Id:
410512
dbSNP Id:
rs764870249
ExAC:
2:48025865 G / C
gnomAD v2:
2-48025865-G-C
gnomAD v3:
2-47798726-G-C
gnomAD v4:
2-47798726-G-C
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47798726G>C , CM000664.2:g.47798726G>C | GRCh38 |
| NC_000002.11:g.48025865G>C , CM000664.1:g.48025865G>C | GRCh37 |
| NC_000002.10:g.47879369G>C | NCBI36 |
| NG_007111.1:g.20580G>C , LRG_219:g.20580G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.446G>C (MSH6) | ENSP00000406248.2:p.Arg149Pro | |
| ENST00000420813.6:c.446G>C (MSH6) | ENSP00000390382.2:p.Arg149Pro | |
| ENST00000455383.6:c.446G>C (MSH6) | ENSP00000397484.2:p.Arg149Pro | |
| ENST00000700004.2:c.743G>C (MSH6) | ENSP00000514752.2:p.Arg248Pro | |
| ENST00000699999.1:n.827G>C (MSH6) | ||
| ENST00000700000.1:c.743G>C (MSH6) | ENSP00000514749.1:p.Arg248Pro | |
| ENST00000700002.1:c.749G>C (MSH6) | ENSP00000514750.1:p.Arg250Pro | |
| ENST00000700003.1:c.627+2663G>C (MSH6) | ENSP00000514751.1:n.627+2663G>C | |
| ENST00000234420.11:c.743G>C (MSH6) MANE Select | ENSP00000234420.5:p.Arg248Pro | |
| ENST00000540021.6:c.353G>C (MSH6) | ENSP00000446475.1:p.Arg118Pro | |
| ENST00000652107.1:c.446G>C (MSH6) | ENSP00000498629.1:p.Arg149Pro | |
| ENST00000673637.1:c.446G>C (MSH6) | ENSP00000501310.1:p.Arg149Pro | |
| ENST00000673922.1:n.465G>C (MSH6) | ||
| ENST00000234420.9:c.743G>C (MSH6) | ENSP00000234420.4:p.Arg248Pro | |
| ENST00000405808.5:c.170-9286C>G (FBXO11) | ENSP00000385127.1:n.170-9286C>G | |
| ENST00000411819.1:c.446G>C (MSH6) | ENSP00000406248.1:p.Arg149Pro | |
| ENST00000434234.5:c.*124+9268C>G (FBXO11) | ENSP00000402692.1:n.*124+9268C>G | |
| ENST00000445503.5:c.*90G>C (MSH6) | ENSP00000405294.1:n.*90G>C | |
| ENST00000456246.1:c.*231G>C (MSH6) | ENSP00000410570.1:n.*231G>C | |
| ENST00000538136.1:c.-164G>C (MSH6) | ENSP00000438580.1:n.-164G>C | |
| ENST00000540021.5:c.353G>C (MSH6) | ENSP00000446475.1:p.Arg118Pro | |
| ENST00000614496.4:c.-164G>C (MSH6) | ENSP00000477844.1:n.-164G>C | |
| ENST00000616033.4:c.740G>C (MSH6) | ENSP00000480261.1:p.Arg247Pro | |
| ENST00000622629.4:c.-2354G>C (MSH6) | ENSP00000482078.1:n.-2354G>C | |
| NM_000179.2:c.743G>C , LRG_219t1:c.743G>C (MSH6) | NP_000170.1:p.Arg248Pro | |
| NM_001281492.1:c.353G>C (MSH6) | NP_001268421.1:p.Arg118Pro | |
| NM_001281493.1:c.-164G>C (MSH6) | NP_001268422.1:n.-164G>C | |
| NM_001281494.1:c.-164G>C (MSH6) | NP_001268423.1:n.-164G>C | |
| XM_005264271.1:c.446G>C (MSH6) | XP_005264328.1:p.Arg149Pro | |
| XM_011532798.1:c.560G>C (MSH6) | XP_011531100.1:p.Arg187Pro | |
| XM_011532799.1:c.446G>C (MSH6) | XP_011531101.1:p.Arg149Pro | |
| XM_011532800.1:c.446G>C (MSH6) | XP_011531102.1:p.Arg149Pro | |
| XM_024452819.1:c.743G>C (MSH6) | XP_024308587.1:p.Arg248Pro | |
| XM_024452820.1:c.560G>C (MSH6) | XP_024308588.1:p.Arg187Pro | |
| XM_024452821.1:c.446G>C (MSH6) | XP_024308589.1:p.Arg149Pro | |
| XM_024452822.1:c.-164G>C (MSH6) | XP_024308590.1:n.-164G>C | |
| NM_000179.3:c.743G>C (MSH6) MANE Select | NP_000170.1:p.Arg248Pro | |
| NM_001281492.2:c.353G>C (MSH6) | NP_001268421.1:p.Arg118Pro | |
| NM_001281493.2:c.-164G>C (MSH6) | NP_001268422.1:n.-164G>C | |
| NM_001281494.2:c.-164G>C (MSH6) | NP_001268423.1:n.-164G>C |