Linked Data
ClinVar Variation Id:
182651
dbSNP Id:
rs192740549
ExAC:
2:48033984 G / C
gnomAD v2:
2-48033984-G-C
gnomAD v3:
2-47806845-G-C
gnomAD v4:
2-47806845-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806845G>C , CM000664.2:g.47806845G>C | GRCh38 |
| NC_000002.11:g.48033984G>C , CM000664.1:g.48033984G>C | GRCh37 |
| NC_000002.10:g.47887488G>C | NCBI36 |
| NG_007111.1:g.28699G>C , LRG_219:g.28699G>C | |
| NG_008397.1:g.103831C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3771G>C (MSH6) | ENSP00000406248.2:p.Leu1257Phe | |
| ENST00000420813.6:c.3771G>C (MSH6) | ENSP00000390382.2:p.Leu1257Phe | |
| ENST00000455383.6:c.3771G>C (MSH6) | ENSP00000397484.2:p.Leu1257Phe | |
| ENST00000700004.2:c.3684G>C (MSH6) | ENSP00000514752.2:p.Leu1228Phe | |
| ENST00000699999.1:n.4742G>C (MSH6) | ||
| ENST00000700000.1:c.2502G>C (MSH6) | ENSP00000514749.1:p.Leu834Phe | |
| ENST00000700002.1:c.4074G>C (MSH6) | ENSP00000514750.1:p.Leu1358Phe | |
| ENST00000700003.1:c.1523G>C (MSH6) | ENSP00000514751.1:n.1523G>C | |
| ENST00000700004.1:c.2841G>C (MSH6) | ENSP00000514752.1:p.Leu947Phe | |
| ENST00000700005.1:n.3046G>C (MSH6) | ||
| ENST00000700007.1:n.2663G>C (MSH6) | ||
| ENST00000700008.1:n.2330G>C (MSH6) | ||
| ENST00000700009.1:n.2732G>C (MSH6) | ||
| ENST00000700010.1:n.1477G>C (MSH6) | ||
| ENST00000700011.1:n.3362G>C (MSH6) | ||
| ENST00000682451.1:n.3903C>G (FBXO11) | ||
| ENST00000684712.1:n.4165C>G (FBXO11) | ||
| ENST00000234420.11:c.4068G>C (MSH6) MANE Select | ENSP00000234420.5:p.Leu1356Phe | |
| ENST00000540021.6:c.3678G>C (MSH6) | ENSP00000446475.1:p.Leu1226Phe | |
| ENST00000652107.1:c.3771G>C (MSH6) | ENSP00000498629.1:p.Leu1257Phe | |
| ENST00000673637.1:c.3771G>C (MSH6) | ENSP00000501310.1:p.Leu1257Phe | |
| ENST00000234420.9:c.4068G>C (MSH6) | ENSP00000234420.4:p.Leu1356Phe | |
| ENST00000405808.5:c.169+1350C>G (FBXO11) | ENSP00000385127.1:n.169+1350C>G | |
| ENST00000434234.5:c.*124+1149C>G (FBXO11) | ENSP00000402692.1:n.*124+1149C>G | |
| ENST00000445503.5:c.*3415G>C (MSH6) | ENSP00000405294.1:n.*3415G>C | |
| ENST00000465204.5:n.3065C>G (FBXO11) | ||
| ENST00000538136.1:c.3162G>C (MSH6) | ENSP00000438580.1:p.Leu1054Phe | |
| ENST00000540021.5:c.3678G>C (MSH6) | ENSP00000446475.1:p.Leu1226Phe | |
| ENST00000614496.4:c.3162G>C (MSH6) | ENSP00000477844.1:p.Leu1054Phe | |
| ENST00000622629.4:c.969G>C (MSH6) | ENSP00000482078.1:p.Leu323Phe | |
| NM_000179.2:c.4068G>C , LRG_219t1:c.4068G>C (MSH6) | NP_000170.1:p.Leu1356Phe | |
| NM_001281492.1:c.3678G>C (MSH6) | NP_001268421.1:p.Leu1226Phe | |
| NM_001281493.1:c.3162G>C (MSH6) | NP_001268422.1:p.Leu1054Phe | |
| NM_001281494.1:c.3162G>C (MSH6) | NP_001268423.1:p.Leu1054Phe | |
| XM_005264271.1:c.3771G>C (MSH6) | XP_005264328.1:p.Leu1257Phe | |
| XM_011532798.1:c.3885G>C (MSH6) | XP_011531100.1:p.Leu1295Phe | |
| XM_011532799.1:c.3771G>C (MSH6) | XP_011531101.1:p.Leu1257Phe | |
| XM_011532800.1:c.3771G>C (MSH6) | XP_011531102.1:p.Leu1257Phe | |
| XM_024452819.1:c.4161G>C (MSH6) | XP_024308587.1:p.Leu1387Phe | |
| XM_024452820.1:c.3978G>C (MSH6) | XP_024308588.1:p.Leu1326Phe | |
| XM_024452821.1:c.3864G>C (MSH6) | XP_024308589.1:p.Leu1288Phe | |
| XM_024452822.1:c.3255G>C (MSH6) | XP_024308590.1:p.Leu1085Phe | |
| NM_000179.3:c.4068G>C (MSH6) MANE Select | NP_000170.1:p.Leu1356Phe | |
| NM_001281492.2:c.3678G>C (MSH6) | NP_001268421.1:p.Leu1226Phe | |
| NM_001281493.2:c.3162G>C (MSH6) | NP_001268422.1:p.Leu1054Phe | |
| NM_001281494.2:c.3162G>C (MSH6) | NP_001268423.1:p.Leu1054Phe |