Linked Data
ClinVar Variation Id:
1487610
dbSNP Id:
rs771181616
ExAC:
2:48033922 G / A
gnomAD v2:
2-48033922-G-A
gnomAD v3:
2-47806783-G-A
gnomAD v4:
2-47806783-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806783G>A , CM000664.2:g.47806783G>A | GRCh38 |
| NC_000002.11:g.48033922G>A , CM000664.1:g.48033922G>A | GRCh37 |
| NC_000002.10:g.47887426G>A | NCBI36 |
| NG_007111.1:g.28637G>A , LRG_219:g.28637G>A | |
| NG_008397.1:g.103893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3709G>A (MSH6) | ENSP00000406248.2:p.Val1237Ile | |
| ENST00000420813.6:c.3709G>A (MSH6) | ENSP00000390382.2:p.Val1237Ile | |
| ENST00000455383.6:c.3709G>A (MSH6) | ENSP00000397484.2:p.Val1237Ile | |
| ENST00000700004.2:c.3622G>A (MSH6) | ENSP00000514752.2:p.Val1208Ile | |
| ENST00000699999.1:n.4680G>A (MSH6) | ||
| ENST00000700000.1:c.2440G>A (MSH6) | ENSP00000514749.1:p.Val814Ile | |
| ENST00000700002.1:c.4012G>A (MSH6) | ENSP00000514750.1:p.Val1338Ile | |
| ENST00000700003.1:c.1461G>A (MSH6) | ENSP00000514751.1:n.1461G>A | |
| ENST00000700004.1:c.2779G>A (MSH6) | ENSP00000514752.1:p.Val927Ile | |
| ENST00000700005.1:n.2984G>A (MSH6) | ||
| ENST00000700007.1:n.2601G>A (MSH6) | ||
| ENST00000700008.1:n.2268G>A (MSH6) | ||
| ENST00000700009.1:n.2670G>A (MSH6) | ||
| ENST00000700010.1:n.1415G>A (MSH6) | ||
| ENST00000700011.1:n.3300G>A (MSH6) | ||
| ENST00000682451.1:n.3965C>T (FBXO11) | ||
| ENST00000684712.1:n.4227C>T (FBXO11) | ||
| ENST00000234420.11:c.4006G>A (MSH6) MANE Select | ENSP00000234420.5:p.Val1336Ile | |
| ENST00000540021.6:c.3616G>A (MSH6) | ENSP00000446475.1:p.Val1206Ile | |
| ENST00000652107.1:c.3709G>A (MSH6) | ENSP00000498629.1:p.Val1237Ile | |
| ENST00000673637.1:c.3709G>A (MSH6) | ENSP00000501310.1:p.Val1237Ile | |
| ENST00000234420.9:c.4006G>A (MSH6) | ENSP00000234420.4:p.Val1336Ile | |
| ENST00000405808.5:c.169+1412C>T (FBXO11) | ENSP00000385127.1:n.169+1412C>T | |
| ENST00000434234.5:c.*124+1211C>T (FBXO11) | ENSP00000402692.1:n.*124+1211C>T | |
| ENST00000445503.5:c.*3353G>A (MSH6) | ENSP00000405294.1:n.*3353G>A | |
| ENST00000465204.5:n.3127C>T (FBXO11) | ||
| ENST00000538136.1:c.3100G>A (MSH6) | ENSP00000438580.1:p.Val1034Ile | |
| ENST00000540021.5:c.3616G>A (MSH6) | ENSP00000446475.1:p.Val1206Ile | |
| ENST00000614496.4:c.3100G>A (MSH6) | ENSP00000477844.1:p.Val1034Ile | |
| ENST00000622629.4:c.907G>A (MSH6) | ENSP00000482078.1:p.Val303Ile | |
| NM_000179.2:c.4006G>A , LRG_219t1:c.4006G>A (MSH6) | NP_000170.1:p.Val1336Ile | |
| NM_001281492.1:c.3616G>A (MSH6) | NP_001268421.1:p.Val1206Ile | |
| NM_001281493.1:c.3100G>A (MSH6) | NP_001268422.1:p.Val1034Ile | |
| NM_001281494.1:c.3100G>A (MSH6) | NP_001268423.1:p.Val1034Ile | |
| XM_005264271.1:c.3709G>A (MSH6) | XP_005264328.1:p.Val1237Ile | |
| XM_011532798.1:c.3823G>A (MSH6) | XP_011531100.1:p.Val1275Ile | |
| XM_011532799.1:c.3709G>A (MSH6) | XP_011531101.1:p.Val1237Ile | |
| XM_011532800.1:c.3709G>A (MSH6) | XP_011531102.1:p.Val1237Ile | |
| XM_024452819.1:c.4099G>A (MSH6) | XP_024308587.1:p.Val1367Ile | |
| XM_024452820.1:c.3916G>A (MSH6) | XP_024308588.1:p.Val1306Ile | |
| XM_024452821.1:c.3802G>A (MSH6) | XP_024308589.1:p.Val1268Ile | |
| XM_024452822.1:c.3193G>A (MSH6) | XP_024308590.1:p.Val1065Ile | |
| NM_000179.3:c.4006G>A (MSH6) MANE Select | NP_000170.1:p.Val1336Ile | |
| NM_001281492.2:c.3616G>A (MSH6) | NP_001268421.1:p.Val1206Ile | |
| NM_001281493.2:c.3100G>A (MSH6) | NP_001268422.1:p.Val1034Ile | |
| NM_001281494.2:c.3100G>A (MSH6) | NP_001268423.1:p.Val1034Ile |