Linked Data
ClinVar Variation Id:
182656
ClinVar RCV Id:
RCV000160711
RCV000217717
RCV000456306
RCV000986705
RCV000781604
RCV001030488
RCV003467255
RCV003998510
dbSNP Id:
rs730881813
gnomAD v2:
2-48023107-C-T
gnomAD v3:
2-47795968-C-T
gnomAD v4:
2-47795968-C-T
PubMed:
PMID:24100870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47795968C>T , CM000664.2:g.47795968C>T | GRCh38 |
| NC_000002.11:g.48023107C>T , CM000664.1:g.48023107C>T | GRCh37 |
| NC_000002.10:g.47876611C>T | NCBI36 |
| NG_007111.1:g.17822C>T , LRG_219:g.17822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.235C>T (MSH6) | ENSP00000406248.2:p.Arg79Cys | |
| ENST00000420813.6:c.235C>T (MSH6) | ENSP00000390382.2:p.Arg79Cys | |
| ENST00000455383.6:c.235C>T (MSH6) | ENSP00000397484.2:p.Arg79Cys | |
| ENST00000700004.2:c.532C>T (MSH6) | ENSP00000514752.2:p.Arg178Cys | |
| ENST00000699999.1:n.616C>T (MSH6) | ||
| ENST00000700000.1:c.532C>T (MSH6) | ENSP00000514749.1:p.Arg178Cys | |
| ENST00000700001.1:n.604C>T (MSH6) | ||
| ENST00000700002.1:c.532C>T (MSH6) | ENSP00000514750.1:p.Arg178Cys | |
| ENST00000700003.1:c.532C>T (MSH6) | ENSP00000514751.1:p.Arg178Cys | |
| ENST00000234420.11:c.532C>T (MSH6) MANE Select | ENSP00000234420.5:p.Arg178Cys | |
| ENST00000540021.6:c.238-2643C>T (MSH6) | ENSP00000446475.1:n.238-2643C>T | |
| ENST00000652107.1:c.235C>T (MSH6) | ENSP00000498629.1:p.Arg79Cys | |
| ENST00000673637.1:c.235C>T (MSH6) | ENSP00000501310.1:p.Arg79Cys | |
| ENST00000673922.1:n.350-2643C>T (MSH6) | ||
| ENST00000234420.9:c.532C>T (MSH6) | ENSP00000234420.4:p.Arg178Cys | |
| ENST00000405808.5:c.170-6528G>A (FBXO11) | ENSP00000385127.1:n.170-6528G>A | |
| ENST00000411819.1:c.235C>T (MSH6) | ENSP00000406248.1:p.Arg79Cys | |
| ENST00000420813.5:c.235C>T (MSH6) | ENSP00000390382.1:p.Arg79Cys | |
| ENST00000434234.5:c.*125-6528G>A (FBXO11) | ENSP00000402692.1:n.*125-6528G>A | |
| ENST00000445503.5:c.458-2643C>T (MSH6) | ENSP00000405294.1:n.458-2643C>T | |
| ENST00000455383.5:c.235C>T (MSH6) | ENSP00000397484.1:p.Arg79Cys | |
| ENST00000456246.1:c.*20C>T (MSH6) | ENSP00000410570.1:n.*20C>T | |
| ENST00000538136.1:c.-371C>T (MSH6) | ENSP00000438580.1:n.-371C>T | |
| ENST00000540021.5:c.238-2643C>T (MSH6) | ENSP00000446475.1:n.238-2643C>T | |
| ENST00000614496.4:c.-279-2643C>T (MSH6) | ENSP00000477844.1:n.-279-2643C>T | |
| ENST00000616033.4:c.529C>T (MSH6) | ENSP00000480261.1:p.Arg177Cys | |
| ENST00000622629.4:c.-2565C>T (MSH6) | ENSP00000482078.1:n.-2565C>T | |
| NM_000179.2:c.532C>T , LRG_219t1:c.532C>T (MSH6) | NP_000170.1:p.Arg178Cys | |
| NM_001281492.1:c.238-2643C>T (MSH6) | NP_001268421.1:n.238-2643C>T | |
| NM_001281493.1:c.-279-2643C>T (MSH6) | NP_001268422.1:n.-279-2643C>T | |
| NM_001281494.1:c.-371C>T (MSH6) | NP_001268423.1:n.-371C>T | |
| XM_005264271.1:c.235C>T (MSH6) | XP_005264328.1:p.Arg79Cys | |
| XM_011532798.1:c.349C>T (MSH6) | XP_011531100.1:p.Arg117Cys | |
| XM_011532799.1:c.235C>T (MSH6) | XP_011531101.1:p.Arg79Cys | |
| XM_011532800.1:c.235C>T (MSH6) | XP_011531102.1:p.Arg79Cys | |
| XM_024452819.1:c.532C>T (MSH6) | XP_024308587.1:p.Arg178Cys | |
| XM_024452820.1:c.349C>T (MSH6) | XP_024308588.1:p.Arg117Cys | |
| XM_024452821.1:c.235C>T (MSH6) | XP_024308589.1:p.Arg79Cys | |
| XM_024452822.1:c.-279-2643C>T (MSH6) | XP_024308590.1:n.-279-2643C>T | |
| NM_000179.3:c.532C>T (MSH6) MANE Select | NP_000170.1:p.Arg178Cys | |
| NM_001281492.2:c.238-2643C>T (MSH6) | NP_001268421.1:n.238-2643C>T | |
| NM_001281493.2:c.-279-2643C>T (MSH6) | NP_001268422.1:n.-279-2643C>T | |
| NM_001281494.2:c.-371C>T (MSH6) | NP_001268423.1:n.-371C>T |