Linked Data
ClinVar Variation Id:
188262
ClinVar RCV Id:
RCV000168238
RCV000214013
RCV000484522
RCV000662602
RCV000780480
RCV003462260
RCV003491921
RCV003995615
dbSNP Id:
rs786204182
gnomAD v3:
2-47806297-C-G
gnomAD v4:
2-47806297-C-G
COSMIC:
COSM6091925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806297C>G , CM000664.2:g.47806297C>G | GRCh38 |
| NC_000002.11:g.48033436C>G , CM000664.1:g.48033436C>G | GRCh37 |
| NC_000002.10:g.47886940C>G | NCBI36 |
| NG_007111.1:g.28151C>G , LRG_219:g.28151C>G | |
| NG_008397.1:g.104379G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3443C>G (MSH6) | ENSP00000406248.2:p.Thr1148Ser | |
| ENST00000420813.6:c.3443C>G (MSH6) | ENSP00000390382.2:p.Thr1148Ser | |
| ENST00000455383.6:c.3443C>G (MSH6) | ENSP00000397484.2:p.Thr1148Ser | |
| ENST00000700004.2:c.3356C>G (MSH6) | ENSP00000514752.2:p.Thr1119Ser | |
| ENST00000699999.1:n.4414C>G (MSH6) | ||
| ENST00000700000.1:c.2174C>G (MSH6) | ENSP00000514749.1:p.Thr725Ser | |
| ENST00000700002.1:c.3746C>G (MSH6) | ENSP00000514750.1:p.Thr1249Ser | |
| ENST00000700003.1:c.1195C>G (MSH6) | ENSP00000514751.1:n.1195C>G | |
| ENST00000700004.1:c.2513C>G (MSH6) | ENSP00000514752.1:p.Thr838Ser | |
| ENST00000700005.1:n.2591C>G (MSH6) | ||
| ENST00000700006.1:n.4898C>G (MSH6) | ||
| ENST00000700007.1:n.2335C>G (MSH6) | ||
| ENST00000700008.1:n.1909C>G (MSH6) | ||
| ENST00000700009.1:n.2404C>G (MSH6) | ||
| ENST00000700010.1:n.1149C>G (MSH6) | ||
| ENST00000700011.1:n.3034C>G (MSH6) | ||
| ENST00000682451.1:n.4451G>C (FBXO11) | ||
| ENST00000684712.1:n.4713G>C (FBXO11) | ||
| ENST00000234420.11:c.3740C>G (MSH6) MANE Select | ENSP00000234420.5:p.Thr1247Ser | |
| ENST00000540021.6:c.3350C>G (MSH6) | ENSP00000446475.1:p.Thr1117Ser | |
| ENST00000652107.1:c.3443C>G (MSH6) | ENSP00000498629.1:p.Thr1148Ser | |
| ENST00000673637.1:c.3443C>G (MSH6) | ENSP00000501310.1:p.Thr1148Ser | |
| ENST00000234420.9:c.3740C>G (MSH6) | ENSP00000234420.4:p.Thr1247Ser | |
| ENST00000405808.5:c.169+1898G>C (FBXO11) | ENSP00000385127.1:n.169+1898G>C | |
| ENST00000434234.5:c.*124+1697G>C (FBXO11) | ENSP00000402692.1:n.*124+1697G>C | |
| ENST00000445503.5:c.*3087C>G (MSH6) | ENSP00000405294.1:n.*3087C>G | |
| ENST00000538136.1:c.2834C>G (MSH6) | ENSP00000438580.1:p.Thr945Ser | |
| ENST00000540021.5:c.3350C>G (MSH6) | ENSP00000446475.1:p.Thr1117Ser | |
| ENST00000614496.4:c.2834C>G (MSH6) | ENSP00000477844.1:p.Thr945Ser | |
| ENST00000622629.4:c.644C>G (MSH6) | ENSP00000482078.1:p.Thr215Ser | |
| NM_000179.2:c.3740C>G , LRG_219t1:c.3740C>G (MSH6) | NP_000170.1:p.Thr1247Ser | |
| NM_001281492.1:c.3350C>G (MSH6) | NP_001268421.1:p.Thr1117Ser | |
| NM_001281493.1:c.2834C>G (MSH6) | NP_001268422.1:p.Thr945Ser | |
| NM_001281494.1:c.2834C>G (MSH6) | NP_001268423.1:p.Thr945Ser | |
| XM_005264271.1:c.3443C>G (MSH6) | XP_005264328.1:p.Thr1148Ser | |
| XM_011532798.1:c.3557C>G (MSH6) | XP_011531100.1:p.Thr1186Ser | |
| XM_011532799.1:c.3443C>G (MSH6) | XP_011531101.1:p.Thr1148Ser | |
| XM_011532800.1:c.3443C>G (MSH6) | XP_011531102.1:p.Thr1148Ser | |
| XM_024452819.1:c.3740C>G (MSH6) | XP_024308587.1:p.Thr1247Ser | |
| XM_024452820.1:c.3557C>G (MSH6) | XP_024308588.1:p.Thr1186Ser | |
| XM_024452821.1:c.3443C>G (MSH6) | XP_024308589.1:p.Thr1148Ser | |
| XM_024452822.1:c.2834C>G (MSH6) | XP_024308590.1:p.Thr945Ser | |
| NM_000179.3:c.3740C>G (MSH6) MANE Select | NP_000170.1:p.Thr1247Ser | |
| NM_001281492.2:c.3350C>G (MSH6) | NP_001268421.1:p.Thr1117Ser | |
| NM_001281493.2:c.2834C>G (MSH6) | NP_001268422.1:p.Thr945Ser | |
| NM_001281494.2:c.2834C>G (MSH6) | NP_001268423.1:p.Thr945Ser |