Linked Data
ClinVar Variation Id:
182650
ClinVar RCV Id:
RCV000160703
RCV000229406
RCV000576090
RCV000663168
RCV000766290
RCV001798555
RCV003462097
RCV003998506
dbSNP Id:
rs730881809
gnomAD v2:
2-48033955-G-C
gnomAD v3:
2-47806816-G-C
gnomAD v4:
2-47806816-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806816G>C , CM000664.2:g.47806816G>C | GRCh38 |
| NC_000002.11:g.48033955G>C , CM000664.1:g.48033955G>C | GRCh37 |
| NC_000002.10:g.47887459G>C | NCBI36 |
| NG_007111.1:g.28670G>C , LRG_219:g.28670G>C | |
| NG_008397.1:g.103860C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3742G>C (MSH6) | ENSP00000406248.2:p.Ala1248Pro | |
| ENST00000420813.6:c.3742G>C (MSH6) | ENSP00000390382.2:p.Ala1248Pro | |
| ENST00000455383.6:c.3742G>C (MSH6) | ENSP00000397484.2:p.Ala1248Pro | |
| ENST00000700004.2:c.3655G>C (MSH6) | ENSP00000514752.2:p.Ala1219Pro | |
| ENST00000699999.1:n.4713G>C (MSH6) | ||
| ENST00000700000.1:c.2473G>C (MSH6) | ENSP00000514749.1:p.Ala825Pro | |
| ENST00000700002.1:c.4045G>C (MSH6) | ENSP00000514750.1:p.Ala1349Pro | |
| ENST00000700003.1:c.1494G>C (MSH6) | ENSP00000514751.1:n.1494G>C | |
| ENST00000700004.1:c.2812G>C (MSH6) | ENSP00000514752.1:p.Ala938Pro | |
| ENST00000700005.1:n.3017G>C (MSH6) | ||
| ENST00000700007.1:n.2634G>C (MSH6) | ||
| ENST00000700008.1:n.2301G>C (MSH6) | ||
| ENST00000700009.1:n.2703G>C (MSH6) | ||
| ENST00000700010.1:n.1448G>C (MSH6) | ||
| ENST00000700011.1:n.3333G>C (MSH6) | ||
| ENST00000682451.1:n.3932C>G (FBXO11) | ||
| ENST00000684712.1:n.4194C>G (FBXO11) | ||
| ENST00000234420.11:c.4039G>C (MSH6) MANE Select | ENSP00000234420.5:p.Ala1347Pro | |
| ENST00000540021.6:c.3649G>C (MSH6) | ENSP00000446475.1:p.Ala1217Pro | |
| ENST00000652107.1:c.3742G>C (MSH6) | ENSP00000498629.1:p.Ala1248Pro | |
| ENST00000673637.1:c.3742G>C (MSH6) | ENSP00000501310.1:p.Ala1248Pro | |
| ENST00000234420.9:c.4039G>C (MSH6) | ENSP00000234420.4:p.Ala1347Pro | |
| ENST00000405808.5:c.169+1379C>G (FBXO11) | ENSP00000385127.1:n.169+1379C>G | |
| ENST00000434234.5:c.*124+1178C>G (FBXO11) | ENSP00000402692.1:n.*124+1178C>G | |
| ENST00000445503.5:c.*3386G>C (MSH6) | ENSP00000405294.1:n.*3386G>C | |
| ENST00000465204.5:n.3094C>G (FBXO11) | ||
| ENST00000538136.1:c.3133G>C (MSH6) | ENSP00000438580.1:p.Ala1045Pro | |
| ENST00000540021.5:c.3649G>C (MSH6) | ENSP00000446475.1:p.Ala1217Pro | |
| ENST00000614496.4:c.3133G>C (MSH6) | ENSP00000477844.1:p.Ala1045Pro | |
| ENST00000622629.4:c.940G>C (MSH6) | ENSP00000482078.1:p.Ala314Pro | |
| NM_000179.2:c.4039G>C , LRG_219t1:c.4039G>C (MSH6) | NP_000170.1:p.Ala1347Pro | |
| NM_001281492.1:c.3649G>C (MSH6) | NP_001268421.1:p.Ala1217Pro | |
| NM_001281493.1:c.3133G>C (MSH6) | NP_001268422.1:p.Ala1045Pro | |
| NM_001281494.1:c.3133G>C (MSH6) | NP_001268423.1:p.Ala1045Pro | |
| XM_005264271.1:c.3742G>C (MSH6) | XP_005264328.1:p.Ala1248Pro | |
| XM_011532798.1:c.3856G>C (MSH6) | XP_011531100.1:p.Ala1286Pro | |
| XM_011532799.1:c.3742G>C (MSH6) | XP_011531101.1:p.Ala1248Pro | |
| XM_011532800.1:c.3742G>C (MSH6) | XP_011531102.1:p.Ala1248Pro | |
| XM_024452819.1:c.4132G>C (MSH6) | XP_024308587.1:p.Ala1378Pro | |
| XM_024452820.1:c.3949G>C (MSH6) | XP_024308588.1:p.Ala1317Pro | |
| XM_024452821.1:c.3835G>C (MSH6) | XP_024308589.1:p.Ala1279Pro | |
| XM_024452822.1:c.3226G>C (MSH6) | XP_024308590.1:p.Ala1076Pro | |
| NM_000179.3:c.4039G>C (MSH6) MANE Select | NP_000170.1:p.Ala1347Pro | |
| NM_001281492.2:c.3649G>C (MSH6) | NP_001268421.1:p.Ala1217Pro | |
| NM_001281493.2:c.3133G>C (MSH6) | NP_001268422.1:p.Ala1045Pro | |
| NM_001281494.2:c.3133G>C (MSH6) | NP_001268423.1:p.Ala1045Pro |