Linked Data
ClinVar Variation Id:
219706
dbSNP Id:
rs864622216
gnomAD v3:
2-47791062-G-C
gnomAD v4:
2-47791062-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47791062G>C , CM000664.2:g.47791062G>C | GRCh38 |
| NC_000002.11:g.48018201G>C , CM000664.1:g.48018201G>C | GRCh37 |
| NC_000002.10:g.47871705G>C | NCBI36 |
| NG_007111.1:g.12916G>C , LRG_219:g.12916G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.99G>C (MSH6) | ENSP00000406248.2:p.Gln33His | |
| ENST00000420813.6:c.99G>C (MSH6) | ENSP00000390382.2:p.Gln33His | |
| ENST00000455383.6:c.99G>C (MSH6) | ENSP00000397484.2:p.Gln33His | |
| ENST00000700004.2:c.396G>C (MSH6) | ENSP00000514752.2:p.Gln132His | |
| ENST00000699999.1:n.480G>C (MSH6) | ||
| ENST00000700000.1:c.396G>C (MSH6) | ENSP00000514749.1:p.Gln132His | |
| ENST00000700001.1:n.468G>C (MSH6) | ||
| ENST00000700002.1:c.396G>C (MSH6) | ENSP00000514750.1:p.Gln132His | |
| ENST00000700003.1:c.396G>C (MSH6) | ENSP00000514751.1:p.Gln132His | |
| ENST00000234420.11:c.396G>C (MSH6) MANE Select | ENSP00000234420.5:p.Gln132His | |
| ENST00000540021.6:c.238-7549G>C (MSH6) | ENSP00000446475.1:n.238-7549G>C | |
| ENST00000652107.1:c.99G>C (MSH6) | ENSP00000498629.1:p.Gln33His | |
| ENST00000673637.1:c.99G>C (MSH6) | ENSP00000501310.1:p.Gln33His | |
| ENST00000673922.1:n.350-7549G>C (MSH6) | ||
| ENST00000234420.9:c.396G>C (MSH6) | ENSP00000234420.4:p.Gln132His | |
| ENST00000405808.5:c.170-1622C>G (FBXO11) | ENSP00000385127.1:n.170-1622C>G | |
| ENST00000411819.1:c.99G>C (MSH6) | ENSP00000406248.1:p.Gln33His | |
| ENST00000420813.5:c.99G>C (MSH6) | ENSP00000390382.1:p.Gln33His | |
| ENST00000434234.5:c.*125-1622C>G (FBXO11) | ENSP00000402692.1:n.*125-1622C>G | |
| ENST00000445503.5:c.396G>C (MSH6) | ENSP00000405294.1:p.Gln132His | |
| ENST00000455383.5:c.99G>C (MSH6) | ENSP00000397484.1:p.Gln33His | |
| ENST00000456246.1:c.261-4832G>C (MSH6) | ENSP00000410570.1:n.261-4832G>C | |
| ENST00000538136.1:c.-507G>C (MSH6) | ENSP00000438580.1:n.-507G>C | |
| ENST00000540021.5:c.238-7549G>C (MSH6) | ENSP00000446475.1:n.238-7549G>C | |
| ENST00000606499.1:c.99G>C (MSH6) | ENSP00000475605.1:p.Gln33His | |
| ENST00000614496.4:c.-341G>C (MSH6) | ENSP00000477844.1:n.-341G>C | |
| ENST00000616033.4:c.393G>C (MSH6) | ENSP00000480261.1:p.Gln131His | |
| ENST00000622629.4:c.-2701G>C (MSH6) | ENSP00000482078.1:n.-2701G>C | |
| NM_000179.2:c.396G>C , LRG_219t1:c.396G>C (MSH6) | NP_000170.1:p.Gln132His | |
| NM_001281492.1:c.238-7549G>C (MSH6) | NP_001268421.1:n.238-7549G>C | |
| NM_001281493.1:c.-341G>C (MSH6) | NP_001268422.1:n.-341G>C | |
| NM_001281494.1:c.-507G>C (MSH6) | NP_001268423.1:n.-507G>C | |
| XM_005264271.1:c.99G>C (MSH6) | XP_005264328.1:p.Gln33His | |
| XM_011532798.1:c.213G>C (MSH6) | XP_011531100.1:p.Gln71His | |
| XM_011532799.1:c.99G>C (MSH6) | XP_011531101.1:p.Gln33His | |
| XM_011532800.1:c.99G>C (MSH6) | XP_011531102.1:p.Gln33His | |
| XM_024452819.1:c.396G>C (MSH6) | XP_024308587.1:p.Gln132His | |
| XM_024452820.1:c.213G>C (MSH6) | XP_024308588.1:p.Gln71His | |
| XM_024452821.1:c.99G>C (MSH6) | XP_024308589.1:p.Gln33His | |
| XM_024452822.1:c.-341G>C (MSH6) | XP_024308590.1:n.-341G>C | |
| NM_000179.3:c.396G>C (MSH6) MANE Select | NP_000170.1:p.Gln132His | |
| NM_001281492.2:c.238-7549G>C (MSH6) | NP_001268421.1:n.238-7549G>C | |
| NM_001281493.2:c.-341G>C (MSH6) | NP_001268422.1:n.-341G>C | |
| NM_001281494.2:c.-507G>C (MSH6) | NP_001268423.1:n.-507G>C |