Linked Data
ClinVar Variation Id:
184389
ClinVar RCV Id:
RCV000163638
RCV000198598
RCV000409323
RCV000657088
RCV001706075
RCV003462121
RCV003995266
dbSNP Id:
rs773763465
ExAC:
2:48033789 C / T
gnomAD v2:
2-48033789-C-T
gnomAD v3:
2-47806650-C-T
gnomAD v4:
2-47806650-C-T
COSMIC:
COSM1291512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806650C>T , CM000664.2:g.47806650C>T | GRCh38 |
| NC_000002.11:g.48033789C>T , CM000664.1:g.48033789C>T | GRCh37 |
| NC_000002.10:g.47887293C>T | NCBI36 |
| NG_007111.1:g.28504C>T , LRG_219:g.28504C>T | |
| NG_008397.1:g.104026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3703C>T (MSH6) | ENSP00000406248.2:p.Arg1235Trp | |
| ENST00000420813.6:c.3703C>T (MSH6) | ENSP00000390382.2:p.Arg1235Trp | |
| ENST00000455383.6:c.3703C>T (MSH6) | ENSP00000397484.2:p.Arg1235Trp | |
| ENST00000700004.2:c.3616C>T (MSH6) | ENSP00000514752.2:p.Arg1206Trp | |
| ENST00000699999.1:n.4674C>T (MSH6) | ||
| ENST00000700000.1:c.2434C>T (MSH6) | ENSP00000514749.1:p.Arg812Trp | |
| ENST00000700002.1:c.4006C>T (MSH6) | ENSP00000514750.1:p.Arg1336Trp | |
| ENST00000700003.1:c.1455C>T (MSH6) | ENSP00000514751.1:n.1455C>T | |
| ENST00000700004.1:c.2773C>T (MSH6) | ENSP00000514752.1:p.Arg925Trp | |
| ENST00000700005.1:n.2851C>T (MSH6) | ||
| ENST00000700006.1:n.5158C>T (MSH6) | ||
| ENST00000700007.1:n.2595C>T (MSH6) | ||
| ENST00000700008.1:n.2262C>T (MSH6) | ||
| ENST00000700009.1:n.2664C>T (MSH6) | ||
| ENST00000700010.1:n.1409C>T (MSH6) | ||
| ENST00000700011.1:n.3294C>T (MSH6) | ||
| ENST00000682451.1:n.4098G>A (FBXO11) | ||
| ENST00000684712.1:n.4360G>A (FBXO11) | ||
| ENST00000234420.11:c.4000C>T (MSH6) MANE Select | ENSP00000234420.5:p.Arg1334Trp | |
| ENST00000540021.6:c.3610C>T (MSH6) | ENSP00000446475.1:p.Arg1204Trp | |
| ENST00000652107.1:c.3703C>T (MSH6) | ENSP00000498629.1:p.Arg1235Trp | |
| ENST00000673637.1:c.3703C>T (MSH6) | ENSP00000501310.1:p.Arg1235Trp | |
| ENST00000234420.9:c.4000C>T (MSH6) | ENSP00000234420.4:p.Arg1334Trp | |
| ENST00000405808.5:c.169+1545G>A (FBXO11) | ENSP00000385127.1:n.169+1545G>A | |
| ENST00000434234.5:c.*124+1344G>A (FBXO11) | ENSP00000402692.1:n.*124+1344G>A | |
| ENST00000445503.5:c.*3347C>T (MSH6) | ENSP00000405294.1:n.*3347C>T | |
| ENST00000538136.1:c.3094C>T (MSH6) | ENSP00000438580.1:p.Arg1032Trp | |
| ENST00000540021.5:c.3610C>T (MSH6) | ENSP00000446475.1:p.Arg1204Trp | |
| ENST00000614496.4:c.3094C>T (MSH6) | ENSP00000477844.1:p.Arg1032Trp | |
| ENST00000622629.4:c.901C>T (MSH6) | ENSP00000482078.1:p.Arg301Trp | |
| NM_000179.2:c.4000C>T , LRG_219t1:c.4000C>T (MSH6) | NP_000170.1:p.Arg1334Trp | |
| NM_001281492.1:c.3610C>T (MSH6) | NP_001268421.1:p.Arg1204Trp | |
| NM_001281493.1:c.3094C>T (MSH6) | NP_001268422.1:p.Arg1032Trp | |
| NM_001281494.1:c.3094C>T (MSH6) | NP_001268423.1:p.Arg1032Trp | |
| XM_005264271.1:c.3703C>T (MSH6) | XP_005264328.1:p.Arg1235Trp | |
| XM_011532798.1:c.3817C>T (MSH6) | XP_011531100.1:p.Arg1273Trp | |
| XM_011532799.1:c.3703C>T (MSH6) | XP_011531101.1:p.Arg1235Trp | |
| XM_011532800.1:c.3703C>T (MSH6) | XP_011531102.1:p.Arg1235Trp | |
| XM_024452819.1:c.4093C>T (MSH6) | XP_024308587.1:p.Arg1365Trp | |
| XM_024452820.1:c.3910C>T (MSH6) | XP_024308588.1:p.Arg1304Trp | |
| XM_024452821.1:c.3796C>T (MSH6) | XP_024308589.1:p.Arg1266Trp | |
| XM_024452822.1:c.3187C>T (MSH6) | XP_024308590.1:p.Arg1063Trp | |
| NM_000179.3:c.4000C>T (MSH6) MANE Select | NP_000170.1:p.Arg1334Trp | |
| NM_001281492.2:c.3610C>T (MSH6) | NP_001268421.1:p.Arg1204Trp | |
| NM_001281493.2:c.3094C>T (MSH6) | NP_001268422.1:p.Arg1032Trp | |
| NM_001281494.2:c.3094C>T (MSH6) | NP_001268423.1:p.Arg1032Trp |