Linked Data
ClinVar Variation Id:
1733940
ClinVar RCV Id:
RCV002457452
dbSNP Id:
rs587782117
ExAC:
2:48033385 C / T
gnomAD v2:
2-48033385-C-T
gnomAD v4:
2-47806246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806246C>T , CM000664.2:g.47806246C>T | GRCh38 |
| NC_000002.11:g.48033385C>T , CM000664.1:g.48033385C>T | GRCh37 |
| NC_000002.10:g.47886889C>T | NCBI36 |
| NG_007111.1:g.28100C>T , LRG_219:g.28100C>T | |
| NG_008397.1:g.104430G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3392C>T (MSH6) | ENSP00000406248.2:p.Ala1131Val | |
| ENST00000420813.6:c.3392C>T (MSH6) | ENSP00000390382.2:p.Ala1131Val | |
| ENST00000455383.6:c.3392C>T (MSH6) | ENSP00000397484.2:p.Ala1131Val | |
| ENST00000700004.2:c.3305C>T (MSH6) | ENSP00000514752.2:p.Ala1102Val | |
| ENST00000699999.1:n.4363C>T (MSH6) | ||
| ENST00000700000.1:c.2123C>T (MSH6) | ENSP00000514749.1:p.Ala708Val | |
| ENST00000700002.1:c.3695C>T (MSH6) | ENSP00000514750.1:p.Ala1232Val | |
| ENST00000700003.1:c.1144C>T (MSH6) | ENSP00000514751.1:n.1144C>T | |
| ENST00000700004.1:c.2462C>T (MSH6) | ENSP00000514752.1:p.Ala821Val | |
| ENST00000700005.1:n.2540C>T (MSH6) | ||
| ENST00000700006.1:n.4847C>T (MSH6) | ||
| ENST00000700007.1:n.2284C>T (MSH6) | ||
| ENST00000700008.1:n.1858C>T (MSH6) | ||
| ENST00000700009.1:n.2353C>T (MSH6) | ||
| ENST00000700010.1:n.1098C>T (MSH6) | ||
| ENST00000700011.1:n.2983C>T (MSH6) | ||
| ENST00000682451.1:n.4502G>A (FBXO11) | ||
| ENST00000684712.1:n.4764G>A (FBXO11) | ||
| ENST00000234420.11:c.3689C>T (MSH6) MANE Select | ENSP00000234420.5:p.Ala1230Val | |
| ENST00000540021.6:c.3299C>T (MSH6) | ENSP00000446475.1:p.Ala1100Val | |
| ENST00000652107.1:c.3392C>T (MSH6) | ENSP00000498629.1:p.Ala1131Val | |
| ENST00000673637.1:c.3392C>T (MSH6) | ENSP00000501310.1:p.Ala1131Val | |
| ENST00000234420.9:c.3689C>T (MSH6) | ENSP00000234420.4:p.Ala1230Val | |
| ENST00000405808.5:c.169+1949G>A (FBXO11) | ENSP00000385127.1:n.169+1949G>A | |
| ENST00000434234.5:c.*124+1748G>A (FBXO11) | ENSP00000402692.1:n.*124+1748G>A | |
| ENST00000445503.5:c.*3036C>T (MSH6) | ENSP00000405294.1:n.*3036C>T | |
| ENST00000538136.1:c.2783C>T (MSH6) | ENSP00000438580.1:p.Ala928Val | |
| ENST00000540021.5:c.3299C>T (MSH6) | ENSP00000446475.1:p.Ala1100Val | |
| ENST00000614496.4:c.2783C>T (MSH6) | ENSP00000477844.1:p.Ala928Val | |
| ENST00000622629.4:c.593C>T (MSH6) | ENSP00000482078.1:p.Ala198Val | |
| NM_000179.2:c.3689C>T , LRG_219t1:c.3689C>T (MSH6) | NP_000170.1:p.Ala1230Val | |
| NM_001281492.1:c.3299C>T (MSH6) | NP_001268421.1:p.Ala1100Val | |
| NM_001281493.1:c.2783C>T (MSH6) | NP_001268422.1:p.Ala928Val | |
| NM_001281494.1:c.2783C>T (MSH6) | NP_001268423.1:p.Ala928Val | |
| XM_005264271.1:c.3392C>T (MSH6) | XP_005264328.1:p.Ala1131Val | |
| XM_011532798.1:c.3506C>T (MSH6) | XP_011531100.1:p.Ala1169Val | |
| XM_011532799.1:c.3392C>T (MSH6) | XP_011531101.1:p.Ala1131Val | |
| XM_011532800.1:c.3392C>T (MSH6) | XP_011531102.1:p.Ala1131Val | |
| XM_024452819.1:c.3689C>T (MSH6) | XP_024308587.1:p.Ala1230Val | |
| XM_024452820.1:c.3506C>T (MSH6) | XP_024308588.1:p.Ala1169Val | |
| XM_024452821.1:c.3392C>T (MSH6) | XP_024308589.1:p.Ala1131Val | |
| XM_024452822.1:c.2783C>T (MSH6) | XP_024308590.1:p.Ala928Val | |
| NM_000179.3:c.3689C>T (MSH6) MANE Select | NP_000170.1:p.Ala1230Val | |
| NM_001281492.2:c.3299C>T (MSH6) | NP_001268421.1:p.Ala1100Val | |
| NM_001281493.2:c.2783C>T (MSH6) | NP_001268422.1:p.Ala928Val | |
| NM_001281494.2:c.2783C>T (MSH6) | NP_001268423.1:p.Ala928Val |