Linked Data
ClinVar Variation Id:
182643
ClinVar RCV Id:
RCV000160690
RCV000212643
RCV000409759
RCV000586411
RCV001080910
RCV001356437
RCV003149978
RCV003998501
dbSNP Id:
rs730881802
ExAC:
2:48026172 C / T
gnomAD v2:
2-48026172-C-T
gnomAD v3:
2-47799033-C-T
gnomAD v4:
2-47799033-C-T
PubMed:
PMID:23047549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799033C>T , CM000664.2:g.47799033C>T | GRCh38 |
| NC_000002.11:g.48026172C>T , CM000664.1:g.48026172C>T | GRCh37 |
| NC_000002.10:g.47879676C>T | NCBI36 |
| NG_007111.1:g.20887C>T , LRG_219:g.20887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.753C>T (MSH6) | ENSP00000406248.2:p.Ala251= | |
| ENST00000420813.6:c.753C>T (MSH6) | ENSP00000390382.2:p.Ala251= | |
| ENST00000455383.6:c.753C>T (MSH6) | ENSP00000397484.2:p.Ala251= | |
| ENST00000700004.2:c.1050C>T (MSH6) | ENSP00000514752.2:p.Ala350= | |
| ENST00000699999.1:n.1134C>T (MSH6) | ||
| ENST00000700000.1:c.1050C>T (MSH6) | ENSP00000514749.1:p.Ala350= | |
| ENST00000700002.1:c.1056C>T (MSH6) | ENSP00000514750.1:p.Ala352= | |
| ENST00000700003.1:c.627+2970C>T (MSH6) | ENSP00000514751.1:n.627+2970C>T | |
| ENST00000700004.1:c.207C>T (MSH6) | ENSP00000514752.1:p.Ala69= | |
| ENST00000234420.11:c.1050C>T (MSH6) MANE Select | ENSP00000234420.5:p.Ala350= | |
| ENST00000540021.6:c.660C>T (MSH6) | ENSP00000446475.1:p.Ala220= | |
| ENST00000652107.1:c.753C>T (MSH6) | ENSP00000498629.1:p.Ala251= | |
| ENST00000673637.1:c.753C>T (MSH6) | ENSP00000501310.1:p.Ala251= | |
| ENST00000234420.9:c.1050C>T (MSH6) | ENSP00000234420.4:p.Ala350= | |
| ENST00000405808.5:c.169+9162G>A (FBXO11) | ENSP00000385127.1:n.169+9162G>A | |
| ENST00000434234.5:c.*124+8961G>A (FBXO11) | ENSP00000402692.1:n.*124+8961G>A | |
| ENST00000445503.5:c.*397C>T (MSH6) | ENSP00000405294.1:n.*397C>T | |
| ENST00000538136.1:c.144C>T (MSH6) | ENSP00000438580.1:p.Ala48= | |
| ENST00000540021.5:c.660C>T (MSH6) | ENSP00000446475.1:p.Ala220= | |
| ENST00000614496.4:c.144C>T (MSH6) | ENSP00000477844.1:p.Ala48= | |
| ENST00000616033.4:c.1047C>T (MSH6) | ENSP00000480261.1:p.Ala349= | |
| ENST00000622629.4:c.-2047C>T (MSH6) | ENSP00000482078.1:n.-2047C>T | |
| NM_000179.2:c.1050C>T , LRG_219t1:c.1050C>T (MSH6) | NP_000170.1:p.Ala350= | |
| NM_001281492.1:c.660C>T (MSH6) | NP_001268421.1:p.Ala220= | |
| NM_001281493.1:c.144C>T (MSH6) | NP_001268422.1:p.Ala48= | |
| NM_001281494.1:c.144C>T (MSH6) | NP_001268423.1:p.Ala48= | |
| XM_005264271.1:c.753C>T (MSH6) | XP_005264328.1:p.Ala251= | |
| XM_011532798.1:c.867C>T (MSH6) | XP_011531100.1:p.Ala289= | |
| XM_011532799.1:c.753C>T (MSH6) | XP_011531101.1:p.Ala251= | |
| XM_011532800.1:c.753C>T (MSH6) | XP_011531102.1:p.Ala251= | |
| XM_024452819.1:c.1050C>T (MSH6) | XP_024308587.1:p.Ala350= | |
| XM_024452820.1:c.867C>T (MSH6) | XP_024308588.1:p.Ala289= | |
| XM_024452821.1:c.753C>T (MSH6) | XP_024308589.1:p.Ala251= | |
| XM_024452822.1:c.144C>T (MSH6) | XP_024308590.1:p.Ala48= | |
| NM_000179.3:c.1050C>T (MSH6) MANE Select | NP_000170.1:p.Ala350= | |
| NM_001281492.2:c.660C>T (MSH6) | NP_001268421.1:p.Ala220= | |
| NM_001281493.2:c.144C>T (MSH6) | NP_001268422.1:p.Ala48= | |
| NM_001281494.2:c.144C>T (MSH6) | NP_001268423.1:p.Ala48= |