Linked Data
ClinVar Variation Id:
135843
dbSNP Id:
rs373129248
ExAC:
2:48025743 C / A
gnomAD v2:
2-48025743-C-A
gnomAD v3:
2-47798604-C-A
gnomAD v4:
2-47798604-C-A
PubMed:
PMID:20459533
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47798604C>A , CM000664.2:g.47798604C>A | GRCh38 |
| NC_000002.11:g.48025743C>A , CM000664.1:g.48025743C>A | GRCh37 |
| NC_000002.10:g.47879247C>A | NCBI36 |
| NG_007111.1:g.20458C>A , LRG_219:g.20458C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.331-7C>A (MSH6) | ENSP00000406248.2:n.331-7C>A | |
| ENST00000420813.6:c.331-7C>A (MSH6) | ENSP00000390382.2:n.331-7C>A | |
| ENST00000455383.6:c.331-7C>A (MSH6) | ENSP00000397484.2:n.331-7C>A | |
| ENST00000700004.2:c.628-7C>A (MSH6) | ENSP00000514752.2:n.628-7C>A | |
| ENST00000699999.1:n.712-7C>A (MSH6) | ||
| ENST00000700000.1:c.628-7C>A (MSH6) | ENSP00000514749.1:n.628-7C>A | |
| ENST00000700002.1:c.638-11C>A (MSH6) | ENSP00000514750.1:n.638-11C>A | |
| ENST00000700003.1:c.627+2541C>A (MSH6) | ENSP00000514751.1:n.627+2541C>A | |
| ENST00000234420.11:c.628-7C>A (MSH6) MANE Select | ENSP00000234420.5:n.628-7C>A | |
| ENST00000540021.6:c.238-7C>A (MSH6) | ENSP00000446475.1:n.238-7C>A | |
| ENST00000652107.1:c.331-7C>A (MSH6) | ENSP00000498629.1:n.331-7C>A | |
| ENST00000673637.1:c.331-7C>A (MSH6) | ENSP00000501310.1:n.331-7C>A | |
| ENST00000673922.1:n.350-7C>A (MSH6) | ||
| ENST00000234420.9:c.628-7C>A (MSH6) | ENSP00000234420.4:n.628-7C>A | |
| ENST00000405808.5:c.170-9164G>T (FBXO11) | ENSP00000385127.1:n.170-9164G>T | |
| ENST00000411819.1:c.331-7C>A (MSH6) | ENSP00000406248.1:n.331-7C>A | |
| ENST00000434234.5:c.*125-9164G>T (FBXO11) | ENSP00000402692.1:n.*125-9164G>T | |
| ENST00000445503.5:c.458-7C>A (MSH6) | ENSP00000405294.1:n.458-7C>A | |
| ENST00000455383.5:c.331-7C>A (MSH6) | ENSP00000397484.1:n.331-7C>A | |
| ENST00000456246.1:c.*116-7C>A (MSH6) | ENSP00000410570.1:n.*116-7C>A | |
| ENST00000538136.1:c.-275-11C>A (MSH6) | ENSP00000438580.1:n.-275-11C>A | |
| ENST00000540021.5:c.238-7C>A (MSH6) | ENSP00000446475.1:n.238-7C>A | |
| ENST00000614496.4:c.-279-7C>A (MSH6) | ENSP00000477844.1:n.-279-7C>A | |
| ENST00000616033.4:c.625-7C>A (MSH6) | ENSP00000480261.1:n.625-7C>A | |
| ENST00000622629.4:c.-2469-7C>A (MSH6) | ENSP00000482078.1:n.-2469-7C>A | |
| NM_000179.2:c.628-7C>A , LRG_219t1:c.628-7C>A (MSH6) | NP_000170.1:n.628-7C>A | |
| NM_001281492.1:c.238-7C>A (MSH6) | NP_001268421.1:n.238-7C>A | |
| NM_001281493.1:c.-279-7C>A (MSH6) | NP_001268422.1:n.-279-7C>A | |
| NM_001281494.1:c.-275-11C>A (MSH6) | NP_001268423.1:n.-275-11C>A | |
| XM_005264271.1:c.331-7C>A (MSH6) | XP_005264328.1:n.331-7C>A | |
| XM_011532798.1:c.445-7C>A (MSH6) | XP_011531100.1:n.445-7C>A | |
| XM_011532799.1:c.331-7C>A (MSH6) | XP_011531101.1:n.331-7C>A | |
| XM_011532800.1:c.331-7C>A (MSH6) | XP_011531102.1:n.331-7C>A | |
| XM_024452819.1:c.628-7C>A (MSH6) | XP_024308587.1:n.628-7C>A | |
| XM_024452820.1:c.445-7C>A (MSH6) | XP_024308588.1:n.445-7C>A | |
| XM_024452821.1:c.331-7C>A (MSH6) | XP_024308589.1:n.331-7C>A | |
| XM_024452822.1:c.-279-7C>A (MSH6) | XP_024308590.1:n.-279-7C>A | |
| NM_000179.3:c.628-7C>A (MSH6) MANE Select | NP_000170.1:n.628-7C>A | |
| NM_001281492.2:c.238-7C>A (MSH6) | NP_001268421.1:n.238-7C>A | |
| NM_001281493.2:c.-279-7C>A (MSH6) | NP_001268422.1:n.-279-7C>A | |
| NM_001281494.2:c.-275-11C>A (MSH6) | NP_001268423.1:n.-275-11C>A |