Linked Data
ClinVar Variation Id:
823947
ClinVar RCV Id:
RCV001020645
dbSNP Id:
rs1572741755
gnomAD v4:
2-47805636-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805636T>A , CM000664.2:g.47805636T>A | GRCh38 |
| NC_000002.11:g.48032775T>A , CM000664.1:g.48032775T>A | GRCh37 |
| NC_000002.10:g.47886279T>A | NCBI36 |
| NG_007111.1:g.27490T>A , LRG_219:g.27490T>A | |
| NG_008397.1:g.105040A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3278T>A (MSH6) | ENSP00000406248.2:p.Val1093Asp | |
| ENST00000420813.6:c.3278T>A (MSH6) | ENSP00000390382.2:p.Val1093Asp | |
| ENST00000455383.6:c.3278T>A (MSH6) | ENSP00000397484.2:p.Val1093Asp | |
| ENST00000700004.2:c.3191T>A (MSH6) | ENSP00000514752.2:p.Val1064Asp | |
| ENST00000699999.1:n.4249T>A (MSH6) | ||
| ENST00000700000.1:c.2009T>A (MSH6) | ENSP00000514749.1:p.Val670Asp | |
| ENST00000700002.1:c.3581T>A (MSH6) | ENSP00000514750.1:p.Val1194Asp | |
| ENST00000700003.1:c.1030T>A (MSH6) | ENSP00000514751.1:n.1030T>A | |
| ENST00000700004.1:c.2348T>A (MSH6) | ENSP00000514752.1:p.Val783Asp | |
| ENST00000700005.1:n.2426T>A (MSH6) | ||
| ENST00000700006.1:n.4237T>A (MSH6) | ||
| ENST00000700007.1:n.2170T>A (MSH6) | ||
| ENST00000700008.1:n.1744T>A (MSH6) | ||
| ENST00000700009.1:n.1743T>A (MSH6) | ||
| ENST00000700010.1:n.984T>A (MSH6) | ||
| ENST00000700011.1:n.2869T>A (MSH6) | ||
| ENST00000234420.11:c.3575T>A (MSH6) MANE Select | ENSP00000234420.5:p.Val1192Asp | |
| ENST00000540021.6:c.3185T>A (MSH6) | ENSP00000446475.1:p.Val1062Asp | |
| ENST00000652107.1:c.3278T>A (MSH6) | ENSP00000498629.1:p.Val1093Asp | |
| ENST00000673637.1:c.3278T>A (MSH6) | ENSP00000501310.1:p.Val1093Asp | |
| ENST00000234420.9:c.3575T>A (MSH6) | ENSP00000234420.4:p.Val1192Asp | |
| ENST00000405808.5:c.169+2559A>T (FBXO11) | ENSP00000385127.1:n.169+2559A>T | |
| ENST00000434234.5:c.*124+2358A>T (FBXO11) | ENSP00000402692.1:n.*124+2358A>T | |
| ENST00000445503.5:c.*2922T>A (MSH6) | ENSP00000405294.1:n.*2922T>A | |
| ENST00000538136.1:c.2669T>A (MSH6) | ENSP00000438580.1:p.Val890Asp | |
| ENST00000540021.5:c.3185T>A (MSH6) | ENSP00000446475.1:p.Val1062Asp | |
| ENST00000614496.4:c.2669T>A (MSH6) | ENSP00000477844.1:p.Val890Asp | |
| ENST00000622629.4:c.479T>A (MSH6) | ENSP00000482078.1:p.Val160Asp | |
| NM_000179.2:c.3575T>A , LRG_219t1:c.3575T>A (MSH6) | NP_000170.1:p.Val1192Asp | |
| NM_001281492.1:c.3185T>A (MSH6) | NP_001268421.1:p.Val1062Asp | |
| NM_001281493.1:c.2669T>A (MSH6) | NP_001268422.1:p.Val890Asp | |
| NM_001281494.1:c.2669T>A (MSH6) | NP_001268423.1:p.Val890Asp | |
| XM_005264271.1:c.3278T>A (MSH6) | XP_005264328.1:p.Val1093Asp | |
| XM_011532798.1:c.3392T>A (MSH6) | XP_011531100.1:p.Val1131Asp | |
| XM_011532799.1:c.3278T>A (MSH6) | XP_011531101.1:p.Val1093Asp | |
| XM_011532800.1:c.3278T>A (MSH6) | XP_011531102.1:p.Val1093Asp | |
| XM_024452819.1:c.3575T>A (MSH6) | XP_024308587.1:p.Val1192Asp | |
| XM_024452820.1:c.3392T>A (MSH6) | XP_024308588.1:p.Val1131Asp | |
| XM_024452821.1:c.3278T>A (MSH6) | XP_024308589.1:p.Val1093Asp | |
| XM_024452822.1:c.2669T>A (MSH6) | XP_024308590.1:p.Val890Asp | |
| NM_000179.3:c.3575T>A (MSH6) MANE Select | NP_000170.1:p.Val1192Asp | |
| NM_001281492.2:c.3185T>A (MSH6) | NP_001268421.1:p.Val1062Asp | |
| NM_001281493.2:c.2669T>A (MSH6) | NP_001268422.1:p.Val890Asp | |
| NM_001281494.2:c.2669T>A (MSH6) | NP_001268423.1:p.Val890Asp |