Linked Data
ClinVar Variation Id:
135839
ClinVar RCV Id:
RCV000132157
RCV000408980
RCV001030498
RCV001257068
RCV001355067
RCV003492535
RCV000588824
RCV004528840
RCV001796965
dbSNP Id:
rs576269342
ExAC:
2:48028273 G / A
gnomAD v2:
2-48028273-G-A
gnomAD v3:
2-47801134-G-A
gnomAD v4:
2-47801134-G-A
COSMIC:
COSM5978348
PubMed:
PMID:23047549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47801134G>A , CM000664.2:g.47801134G>A | GRCh38 |
| NC_000002.11:g.48028273G>A , CM000664.1:g.48028273G>A | GRCh37 |
| NC_000002.10:g.47881777G>A | NCBI36 |
| NG_007111.1:g.22988G>A , LRG_219:g.22988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2854G>A (MSH6) | ENSP00000406248.2:p.Val952Ile | |
| ENST00000420813.6:c.2854G>A (MSH6) | ENSP00000390382.2:p.Val952Ile | |
| ENST00000455383.6:c.2854G>A (MSH6) | ENSP00000397484.2:p.Val952Ile | |
| ENST00000700004.2:c.3151G>A (MSH6) | ENSP00000514752.2:p.Val1051Ile | |
| ENST00000699999.1:n.3235G>A (MSH6) | ||
| ENST00000700000.1:c.1606+1545G>A (MSH6) | ENSP00000514749.1:n.1606+1545G>A | |
| ENST00000700002.1:c.3157G>A (MSH6) | ENSP00000514750.1:p.Val1053Ile | |
| ENST00000700003.1:c.628-2286G>A (MSH6) | ENSP00000514751.1:n.628-2286G>A | |
| ENST00000700004.1:c.2308G>A (MSH6) | ENSP00000514752.1:p.Val770Ile | |
| ENST00000234420.11:c.3151G>A (MSH6) MANE Select | ENSP00000234420.5:p.Val1051Ile | |
| ENST00000540021.6:c.2761G>A (MSH6) | ENSP00000446475.1:p.Val921Ile | |
| ENST00000652107.1:c.2854G>A (MSH6) | ENSP00000498629.1:p.Val952Ile | |
| ENST00000673637.1:c.2854G>A (MSH6) | ENSP00000501310.1:p.Val952Ile | |
| ENST00000234420.9:c.3151G>A (MSH6) | ENSP00000234420.4:p.Val1051Ile | |
| ENST00000405808.5:c.169+7061C>T (FBXO11) | ENSP00000385127.1:n.169+7061C>T | |
| ENST00000434234.5:c.*124+6860C>T (FBXO11) | ENSP00000402692.1:n.*124+6860C>T | |
| ENST00000445503.5:c.*2498G>A (MSH6) | ENSP00000405294.1:n.*2498G>A | |
| ENST00000538136.1:c.2245G>A (MSH6) | ENSP00000438580.1:p.Val749Ile | |
| ENST00000540021.5:c.2761G>A (MSH6) | ENSP00000446475.1:p.Val921Ile | |
| ENST00000614496.4:c.2245G>A (MSH6) | ENSP00000477844.1:p.Val749Ile | |
| ENST00000616033.4:c.3148G>A (MSH6) | ENSP00000480261.1:p.Val1050Ile | |
| ENST00000622629.4:c.55G>A (MSH6) | ENSP00000482078.1:p.Val19Ile | |
| NM_000179.2:c.3151G>A , LRG_219t1:c.3151G>A (MSH6) | NP_000170.1:p.Val1051Ile | |
| NM_001281492.1:c.2761G>A (MSH6) | NP_001268421.1:p.Val921Ile | |
| NM_001281493.1:c.2245G>A (MSH6) | NP_001268422.1:p.Val749Ile | |
| NM_001281494.1:c.2245G>A (MSH6) | NP_001268423.1:p.Val749Ile | |
| XM_005264271.1:c.2854G>A (MSH6) | XP_005264328.1:p.Val952Ile | |
| XM_011532798.1:c.2968G>A (MSH6) | XP_011531100.1:p.Val990Ile | |
| XM_011532799.1:c.2854G>A (MSH6) | XP_011531101.1:p.Val952Ile | |
| XM_011532800.1:c.2854G>A (MSH6) | XP_011531102.1:p.Val952Ile | |
| XM_024452819.1:c.3151G>A (MSH6) | XP_024308587.1:p.Val1051Ile | |
| XM_024452820.1:c.2968G>A (MSH6) | XP_024308588.1:p.Val990Ile | |
| XM_024452821.1:c.2854G>A (MSH6) | XP_024308589.1:p.Val952Ile | |
| XM_024452822.1:c.2245G>A (MSH6) | XP_024308590.1:p.Val749Ile | |
| NM_000179.3:c.3151G>A (MSH6) MANE Select | NP_000170.1:p.Val1051Ile | |
| NM_001281492.2:c.2761G>A (MSH6) | NP_001268421.1:p.Val921Ile | |
| NM_001281493.2:c.2245G>A (MSH6) | NP_001268422.1:p.Val749Ile | |
| NM_001281494.2:c.2245G>A (MSH6) | NP_001268423.1:p.Val749Ile |