Linked Data
ClinVar Variation Id:
185667
dbSNP Id:
rs773171352
ExAC:
2:48033478 C / T
gnomAD v2:
2-48033478-C-T
gnomAD v3:
2-47806339-C-T
gnomAD v4:
2-47806339-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806339C>T , CM000664.2:g.47806339C>T | GRCh38 |
| NC_000002.11:g.48033478C>T , CM000664.1:g.48033478C>T | GRCh37 |
| NC_000002.10:g.47886982C>T | NCBI36 |
| NG_007111.1:g.28193C>T , LRG_219:g.28193C>T | |
| NG_008397.1:g.104337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3485C>T (MSH6) | ENSP00000406248.2:p.Ala1162Val | |
| ENST00000420813.6:c.3485C>T (MSH6) | ENSP00000390382.2:p.Ala1162Val | |
| ENST00000455383.6:c.3485C>T (MSH6) | ENSP00000397484.2:p.Ala1162Val | |
| ENST00000700004.2:c.3398C>T (MSH6) | ENSP00000514752.2:p.Ala1133Val | |
| ENST00000699999.1:n.4456C>T (MSH6) | ||
| ENST00000700000.1:c.2216C>T (MSH6) | ENSP00000514749.1:p.Ala739Val | |
| ENST00000700002.1:c.3788C>T (MSH6) | ENSP00000514750.1:p.Ala1263Val | |
| ENST00000700003.1:c.1237C>T (MSH6) | ENSP00000514751.1:n.1237C>T | |
| ENST00000700004.1:c.2555C>T (MSH6) | ENSP00000514752.1:p.Ala852Val | |
| ENST00000700005.1:n.2633C>T (MSH6) | ||
| ENST00000700006.1:n.4940C>T (MSH6) | ||
| ENST00000700007.1:n.2377C>T (MSH6) | ||
| ENST00000700008.1:n.1951C>T (MSH6) | ||
| ENST00000700009.1:n.2446C>T (MSH6) | ||
| ENST00000700010.1:n.1191C>T (MSH6) | ||
| ENST00000700011.1:n.3076C>T (MSH6) | ||
| ENST00000682451.1:n.4409G>A (FBXO11) | ||
| ENST00000684712.1:n.4671G>A (FBXO11) | ||
| ENST00000234420.11:c.3782C>T (MSH6) MANE Select | ENSP00000234420.5:p.Ala1261Val | |
| ENST00000540021.6:c.3392C>T (MSH6) | ENSP00000446475.1:p.Ala1131Val | |
| ENST00000652107.1:c.3485C>T (MSH6) | ENSP00000498629.1:p.Ala1162Val | |
| ENST00000673637.1:c.3485C>T (MSH6) | ENSP00000501310.1:p.Ala1162Val | |
| ENST00000234420.9:c.3782C>T (MSH6) | ENSP00000234420.4:p.Ala1261Val | |
| ENST00000405808.5:c.169+1856G>A (FBXO11) | ENSP00000385127.1:n.169+1856G>A | |
| ENST00000434234.5:c.*124+1655G>A (FBXO11) | ENSP00000402692.1:n.*124+1655G>A | |
| ENST00000445503.5:c.*3129C>T (MSH6) | ENSP00000405294.1:n.*3129C>T | |
| ENST00000538136.1:c.2876C>T (MSH6) | ENSP00000438580.1:p.Ala959Val | |
| ENST00000540021.5:c.3392C>T (MSH6) | ENSP00000446475.1:p.Ala1131Val | |
| ENST00000614496.4:c.2876C>T (MSH6) | ENSP00000477844.1:p.Ala959Val | |
| ENST00000622629.4:c.684C>T (MSH6) | ENSP00000482078.1:p.Cys228= | |
| NM_000179.2:c.3782C>T , LRG_219t1:c.3782C>T (MSH6) | NP_000170.1:p.Ala1261Val | |
| NM_001281492.1:c.3392C>T (MSH6) | NP_001268421.1:p.Ala1131Val | |
| NM_001281493.1:c.2876C>T (MSH6) | NP_001268422.1:p.Ala959Val | |
| NM_001281494.1:c.2876C>T (MSH6) | NP_001268423.1:p.Ala959Val | |
| XM_005264271.1:c.3485C>T (MSH6) | XP_005264328.1:p.Ala1162Val | |
| XM_011532798.1:c.3599C>T (MSH6) | XP_011531100.1:p.Ala1200Val | |
| XM_011532799.1:c.3485C>T (MSH6) | XP_011531101.1:p.Ala1162Val | |
| XM_011532800.1:c.3485C>T (MSH6) | XP_011531102.1:p.Ala1162Val | |
| XM_024452819.1:c.3782C>T (MSH6) | XP_024308587.1:p.Ala1261Val | |
| XM_024452820.1:c.3599C>T (MSH6) | XP_024308588.1:p.Ala1200Val | |
| XM_024452821.1:c.3485C>T (MSH6) | XP_024308589.1:p.Ala1162Val | |
| XM_024452822.1:c.2876C>T (MSH6) | XP_024308590.1:p.Ala959Val | |
| NM_000179.3:c.3782C>T (MSH6) MANE Select | NP_000170.1:p.Ala1261Val | |
| NM_001281492.2:c.3392C>T (MSH6) | NP_001268421.1:p.Ala1131Val | |
| NM_001281493.2:c.2876C>T (MSH6) | NP_001268422.1:p.Ala959Val | |
| NM_001281494.2:c.2876C>T (MSH6) | NP_001268423.1:p.Ala959Val |