Linked Data
ClinVar Variation Id:
36597
dbSNP Id:
rs1800935
ExAC:
2:48023115 T / C
gnomAD v2:
2-48023115-T-C
gnomAD v3:
2-47795976-T-C
gnomAD v4:
2-47795976-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47795976T>C , CM000664.2:g.47795976T>C | GRCh38 |
| NC_000002.11:g.48023115T>C , CM000664.1:g.48023115T>C | GRCh37 |
| NC_000002.10:g.47876619T>C | NCBI36 |
| NG_007111.1:g.17830T>C , LRG_219:g.17830T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.243T>C (MSH6) | ENSP00000406248.2:p.Asp81= | |
| ENST00000420813.6:c.243T>C (MSH6) | ENSP00000390382.2:p.Asp81= | |
| ENST00000455383.6:c.243T>C (MSH6) | ENSP00000397484.2:p.Asp81= | |
| ENST00000700004.2:c.540T>C (MSH6) | ENSP00000514752.2:p.Asp180= | |
| ENST00000699999.1:n.624T>C (MSH6) | ||
| ENST00000700000.1:c.540T>C (MSH6) | ENSP00000514749.1:p.Asp180= | |
| ENST00000700001.1:n.612T>C (MSH6) | ||
| ENST00000700002.1:c.540T>C (MSH6) | ENSP00000514750.1:p.Asp180= | |
| ENST00000700003.1:c.540T>C (MSH6) | ENSP00000514751.1:p.Asp180= | |
| ENST00000234420.11:c.540T>C (MSH6) MANE Select | ENSP00000234420.5:p.Asp180= | |
| ENST00000540021.6:c.238-2635T>C (MSH6) | ENSP00000446475.1:n.238-2635T>C | |
| ENST00000652107.1:c.243T>C (MSH6) | ENSP00000498629.1:p.Asp81= | |
| ENST00000673637.1:c.243T>C (MSH6) | ENSP00000501310.1:p.Asp81= | |
| ENST00000673922.1:n.350-2635T>C (MSH6) | ||
| ENST00000234420.9:c.540T>C (MSH6) | ENSP00000234420.4:p.Asp180= | |
| ENST00000405808.5:c.170-6536A>G (FBXO11) | ENSP00000385127.1:n.170-6536A>G | |
| ENST00000411819.1:c.243T>C (MSH6) | ENSP00000406248.1:p.Asp81= | |
| ENST00000420813.5:c.243T>C (MSH6) | ENSP00000390382.1:p.Asp81= | |
| ENST00000434234.5:c.*125-6536A>G (FBXO11) | ENSP00000402692.1:n.*125-6536A>G | |
| ENST00000445503.5:c.458-2635T>C (MSH6) | ENSP00000405294.1:n.458-2635T>C | |
| ENST00000455383.5:c.243T>C (MSH6) | ENSP00000397484.1:p.Asp81= | |
| ENST00000456246.1:c.*28T>C (MSH6) | ENSP00000410570.1:n.*28T>C | |
| ENST00000538136.1:c.-363T>C (MSH6) | ENSP00000438580.1:n.-363T>C | |
| ENST00000540021.5:c.238-2635T>C (MSH6) | ENSP00000446475.1:n.238-2635T>C | |
| ENST00000614496.4:c.-279-2635T>C (MSH6) | ENSP00000477844.1:n.-279-2635T>C | |
| ENST00000616033.4:c.537T>C (MSH6) | ENSP00000480261.1:p.Asp179= | |
| ENST00000622629.4:c.-2557T>C (MSH6) | ENSP00000482078.1:n.-2557T>C | |
| NM_000179.2:c.540T>C , LRG_219t1:c.540T>C (MSH6) | NP_000170.1:p.Asp180= | |
| NM_001281492.1:c.238-2635T>C (MSH6) | NP_001268421.1:n.238-2635T>C | |
| NM_001281493.1:c.-279-2635T>C (MSH6) | NP_001268422.1:n.-279-2635T>C | |
| NM_001281494.1:c.-363T>C (MSH6) | NP_001268423.1:n.-363T>C | |
| XM_005264271.1:c.243T>C (MSH6) | XP_005264328.1:p.Asp81= | |
| XM_011532798.1:c.357T>C (MSH6) | XP_011531100.1:p.Asp119= | |
| XM_011532799.1:c.243T>C (MSH6) | XP_011531101.1:p.Asp81= | |
| XM_011532800.1:c.243T>C (MSH6) | XP_011531102.1:p.Asp81= | |
| XM_024452819.1:c.540T>C (MSH6) | XP_024308587.1:p.Asp180= | |
| XM_024452820.1:c.357T>C (MSH6) | XP_024308588.1:p.Asp119= | |
| XM_024452821.1:c.243T>C (MSH6) | XP_024308589.1:p.Asp81= | |
| XM_024452822.1:c.-279-2635T>C (MSH6) | XP_024308590.1:n.-279-2635T>C | |
| NM_000179.3:c.540T>C (MSH6) MANE Select | NP_000170.1:p.Asp180= | |
| NM_001281492.2:c.238-2635T>C (MSH6) | NP_001268421.1:n.238-2635T>C | |
| NM_001281493.2:c.-279-2635T>C (MSH6) | NP_001268422.1:n.-279-2635T>C | |
| NM_001281494.2:c.-363T>C (MSH6) | NP_001268423.1:n.-363T>C |