Linked Data
ClinVar Variation Id:
89449
dbSNP Id:
rs587779285
gnomAD v2:
2-48033420-C-A
gnomAD v3:
2-47806281-C-A
gnomAD v4:
2-47806281-C-A
PubMed:
PMID:24763289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806281C>A , CM000664.2:g.47806281C>A | GRCh38 |
| NC_000002.11:g.48033420C>A , CM000664.1:g.48033420C>A | GRCh37 |
| NC_000002.10:g.47886924C>A | NCBI36 |
| NG_007111.1:g.28135C>A , LRG_219:g.28135C>A | |
| NG_008397.1:g.104395G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3427C>A (MSH6) | ENSP00000406248.2:p.Arg1143Ser | |
| ENST00000420813.6:c.3427C>A (MSH6) | ENSP00000390382.2:p.Arg1143Ser | |
| ENST00000455383.6:c.3427C>A (MSH6) | ENSP00000397484.2:p.Arg1143Ser | |
| ENST00000700004.2:c.3340C>A (MSH6) | ENSP00000514752.2:p.Arg1114Ser | |
| ENST00000699999.1:n.4398C>A (MSH6) | ||
| ENST00000700000.1:c.2158C>A (MSH6) | ENSP00000514749.1:p.Arg720Ser | |
| ENST00000700002.1:c.3730C>A (MSH6) | ENSP00000514750.1:p.Arg1244Ser | |
| ENST00000700003.1:c.1179C>A (MSH6) | ENSP00000514751.1:n.1179C>A | |
| ENST00000700004.1:c.2497C>A (MSH6) | ENSP00000514752.1:p.Arg833Ser | |
| ENST00000700005.1:n.2575C>A (MSH6) | ||
| ENST00000700006.1:n.4882C>A (MSH6) | ||
| ENST00000700007.1:n.2319C>A (MSH6) | ||
| ENST00000700008.1:n.1893C>A (MSH6) | ||
| ENST00000700009.1:n.2388C>A (MSH6) | ||
| ENST00000700010.1:n.1133C>A (MSH6) | ||
| ENST00000700011.1:n.3018C>A (MSH6) | ||
| ENST00000682451.1:n.4467G>T (FBXO11) | ||
| ENST00000684712.1:n.4729G>T (FBXO11) | ||
| ENST00000234420.11:c.3724C>A (MSH6) MANE Select | ENSP00000234420.5:p.Arg1242Ser | |
| ENST00000540021.6:c.3334C>A (MSH6) | ENSP00000446475.1:p.Arg1112Ser | |
| ENST00000652107.1:c.3427C>A (MSH6) | ENSP00000498629.1:p.Arg1143Ser | |
| ENST00000673637.1:c.3427C>A (MSH6) | ENSP00000501310.1:p.Arg1143Ser | |
| ENST00000234420.9:c.3724C>A (MSH6) | ENSP00000234420.4:p.Arg1242Ser | |
| ENST00000405808.5:c.169+1914G>T (FBXO11) | ENSP00000385127.1:n.169+1914G>T | |
| ENST00000434234.5:c.*124+1713G>T (FBXO11) | ENSP00000402692.1:n.*124+1713G>T | |
| ENST00000445503.5:c.*3071C>A (MSH6) | ENSP00000405294.1:n.*3071C>A | |
| ENST00000538136.1:c.2818C>A (MSH6) | ENSP00000438580.1:p.Arg940Ser | |
| ENST00000540021.5:c.3334C>A (MSH6) | ENSP00000446475.1:p.Arg1112Ser | |
| ENST00000614496.4:c.2818C>A (MSH6) | ENSP00000477844.1:p.Arg940Ser | |
| ENST00000622629.4:c.628C>A (MSH6) | ENSP00000482078.1:p.Arg210Ser | |
| NM_000179.2:c.3724C>A , LRG_219t1:c.3724C>A (MSH6) | NP_000170.1:p.Arg1242Ser | |
| NM_001281492.1:c.3334C>A (MSH6) | NP_001268421.1:p.Arg1112Ser | |
| NM_001281493.1:c.2818C>A (MSH6) | NP_001268422.1:p.Arg940Ser | |
| NM_001281494.1:c.2818C>A (MSH6) | NP_001268423.1:p.Arg940Ser | |
| XM_005264271.1:c.3427C>A (MSH6) | XP_005264328.1:p.Arg1143Ser | |
| XM_011532798.1:c.3541C>A (MSH6) | XP_011531100.1:p.Arg1181Ser | |
| XM_011532799.1:c.3427C>A (MSH6) | XP_011531101.1:p.Arg1143Ser | |
| XM_011532800.1:c.3427C>A (MSH6) | XP_011531102.1:p.Arg1143Ser | |
| XM_024452819.1:c.3724C>A (MSH6) | XP_024308587.1:p.Arg1242Ser | |
| XM_024452820.1:c.3541C>A (MSH6) | XP_024308588.1:p.Arg1181Ser | |
| XM_024452821.1:c.3427C>A (MSH6) | XP_024308589.1:p.Arg1143Ser | |
| XM_024452822.1:c.2818C>A (MSH6) | XP_024308590.1:p.Arg940Ser | |
| NM_000179.3:c.3724C>A (MSH6) MANE Select | NP_000170.1:p.Arg1242Ser | |
| NM_001281492.2:c.3334C>A (MSH6) | NP_001268421.1:p.Arg1112Ser | |
| NM_001281493.2:c.2818C>A (MSH6) | NP_001268422.1:p.Arg940Ser | |
| NM_001281494.2:c.2818C>A (MSH6) | NP_001268423.1:p.Arg940Ser |