Linked Data
ClinVar Variation Id:
182612
ClinVar RCV Id:
RCV000160656
RCV000196039
RCV000235181
RCV000411901
RCV000781597
RCV002484996
RCV003462093
RCV004535042
RCV003998490
dbSNP Id:
rs374486449
ExAC:
2:48025953 A / C
gnomAD v2:
2-48025953-A-C
gnomAD v3:
2-47798814-A-C
gnomAD v4:
2-47798814-A-C
PubMed:
PMID:25186627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47798814A>C , CM000664.2:g.47798814A>C | GRCh38 |
| NC_000002.11:g.48025953A>C , CM000664.1:g.48025953A>C | GRCh37 |
| NC_000002.10:g.47879457A>C | NCBI36 |
| NG_007111.1:g.20668A>C , LRG_219:g.20668A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.534A>C (MSH6) | ENSP00000406248.2:p.Glu178Asp | |
| ENST00000420813.6:c.534A>C (MSH6) | ENSP00000390382.2:p.Glu178Asp | |
| ENST00000455383.6:c.534A>C (MSH6) | ENSP00000397484.2:p.Glu178Asp | |
| ENST00000700004.2:c.831A>C (MSH6) | ENSP00000514752.2:p.Glu277Asp | |
| ENST00000699999.1:n.915A>C (MSH6) | ||
| ENST00000700000.1:c.831A>C (MSH6) | ENSP00000514749.1:p.Glu277Asp | |
| ENST00000700002.1:c.837A>C (MSH6) | ENSP00000514750.1:p.Glu279Asp | |
| ENST00000700003.1:c.627+2751A>C (MSH6) | ENSP00000514751.1:n.627+2751A>C | |
| ENST00000234420.11:c.831A>C (MSH6) MANE Select | ENSP00000234420.5:p.Glu277Asp | |
| ENST00000540021.6:c.441A>C (MSH6) | ENSP00000446475.1:p.Glu147Asp | |
| ENST00000652107.1:c.534A>C (MSH6) | ENSP00000498629.1:p.Glu178Asp | |
| ENST00000673637.1:c.534A>C (MSH6) | ENSP00000501310.1:p.Glu178Asp | |
| ENST00000673922.1:n.553A>C (MSH6) | ||
| ENST00000234420.9:c.831A>C (MSH6) | ENSP00000234420.4:p.Glu277Asp | |
| ENST00000405808.5:c.170-9374T>G (FBXO11) | ENSP00000385127.1:n.170-9374T>G | |
| ENST00000434234.5:c.*124+9180T>G (FBXO11) | ENSP00000402692.1:n.*124+9180T>G | |
| ENST00000445503.5:c.*178A>C (MSH6) | ENSP00000405294.1:n.*178A>C | |
| ENST00000456246.1:c.*319A>C (MSH6) | ENSP00000410570.1:n.*319A>C | |
| ENST00000538136.1:c.-76A>C (MSH6) | ENSP00000438580.1:n.-76A>C | |
| ENST00000540021.5:c.441A>C (MSH6) | ENSP00000446475.1:p.Glu147Asp | |
| ENST00000614496.4:c.-76A>C (MSH6) | ENSP00000477844.1:n.-76A>C | |
| ENST00000616033.4:c.828A>C (MSH6) | ENSP00000480261.1:p.Glu276Asp | |
| ENST00000622629.4:c.-2266A>C (MSH6) | ENSP00000482078.1:n.-2266A>C | |
| NM_000179.2:c.831A>C , LRG_219t1:c.831A>C (MSH6) | NP_000170.1:p.Glu277Asp | |
| NM_001281492.1:c.441A>C (MSH6) | NP_001268421.1:p.Glu147Asp | |
| NM_001281493.1:c.-76A>C (MSH6) | NP_001268422.1:n.-76A>C | |
| NM_001281494.1:c.-76A>C (MSH6) | NP_001268423.1:n.-76A>C | |
| XM_005264271.1:c.534A>C (MSH6) | XP_005264328.1:p.Glu178Asp | |
| XM_011532798.1:c.648A>C (MSH6) | XP_011531100.1:p.Glu216Asp | |
| XM_011532799.1:c.534A>C (MSH6) | XP_011531101.1:p.Glu178Asp | |
| XM_011532800.1:c.534A>C (MSH6) | XP_011531102.1:p.Glu178Asp | |
| XM_024452819.1:c.831A>C (MSH6) | XP_024308587.1:p.Glu277Asp | |
| XM_024452820.1:c.648A>C (MSH6) | XP_024308588.1:p.Glu216Asp | |
| XM_024452821.1:c.534A>C (MSH6) | XP_024308589.1:p.Glu178Asp | |
| XM_024452822.1:c.-76A>C (MSH6) | XP_024308590.1:n.-76A>C | |
| NM_000179.3:c.831A>C (MSH6) MANE Select | NP_000170.1:p.Glu277Asp | |
| NM_001281492.2:c.441A>C (MSH6) | NP_001268421.1:p.Glu147Asp | |
| NM_001281493.2:c.-76A>C (MSH6) | NP_001268422.1:n.-76A>C | |
| NM_001281494.2:c.-76A>C (MSH6) | NP_001268423.1:n.-76A>C |