Linked Data
ClinVar Variation Id:
220943
dbSNP Id:
rs780187989
ExAC:
2:48033769 A / G
gnomAD v2:
2-48033769-A-G
gnomAD v3:
2-47806630-A-G
gnomAD v4:
2-47806630-A-G
PubMed:
PMID:23047549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806630A>G , CM000664.2:g.47806630A>G | GRCh38 |
| NC_000002.11:g.48033769A>G , CM000664.1:g.48033769A>G | GRCh37 |
| NC_000002.10:g.47887273A>G | NCBI36 |
| NG_007111.1:g.28484A>G , LRG_219:g.28484A>G | |
| NG_008397.1:g.104046T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3683A>G (MSH6) | ENSP00000406248.2:p.Asn1228Ser | |
| ENST00000420813.6:c.3683A>G (MSH6) | ENSP00000390382.2:p.Asn1228Ser | |
| ENST00000455383.6:c.3683A>G (MSH6) | ENSP00000397484.2:p.Asn1228Ser | |
| ENST00000700004.2:c.3596A>G (MSH6) | ENSP00000514752.2:p.Asn1199Ser | |
| ENST00000699999.1:n.4654A>G (MSH6) | ||
| ENST00000700000.1:c.2414A>G (MSH6) | ENSP00000514749.1:p.Asn805Ser | |
| ENST00000700002.1:c.3986A>G (MSH6) | ENSP00000514750.1:p.Asn1329Ser | |
| ENST00000700003.1:c.1435A>G (MSH6) | ENSP00000514751.1:n.1435A>G | |
| ENST00000700004.1:c.2753A>G (MSH6) | ENSP00000514752.1:p.Asn918Ser | |
| ENST00000700005.1:n.2831A>G (MSH6) | ||
| ENST00000700006.1:n.5138A>G (MSH6) | ||
| ENST00000700007.1:n.2575A>G (MSH6) | ||
| ENST00000700008.1:n.2242A>G (MSH6) | ||
| ENST00000700009.1:n.2644A>G (MSH6) | ||
| ENST00000700010.1:n.1389A>G (MSH6) | ||
| ENST00000700011.1:n.3274A>G (MSH6) | ||
| ENST00000682451.1:n.4118T>C (FBXO11) | ||
| ENST00000684712.1:n.4380T>C (FBXO11) | ||
| ENST00000234420.11:c.3980A>G (MSH6) MANE Select | ENSP00000234420.5:p.Asn1327Ser | |
| ENST00000540021.6:c.3590A>G (MSH6) | ENSP00000446475.1:p.Asn1197Ser | |
| ENST00000652107.1:c.3683A>G (MSH6) | ENSP00000498629.1:p.Asn1228Ser | |
| ENST00000673637.1:c.3683A>G (MSH6) | ENSP00000501310.1:p.Asn1228Ser | |
| ENST00000234420.9:c.3980A>G (MSH6) | ENSP00000234420.4:p.Asn1327Ser | |
| ENST00000405808.5:c.169+1565T>C (FBXO11) | ENSP00000385127.1:n.169+1565T>C | |
| ENST00000434234.5:c.*124+1364T>C (FBXO11) | ENSP00000402692.1:n.*124+1364T>C | |
| ENST00000445503.5:c.*3327A>G (MSH6) | ENSP00000405294.1:n.*3327A>G | |
| ENST00000538136.1:c.3074A>G (MSH6) | ENSP00000438580.1:p.Asn1025Ser | |
| ENST00000540021.5:c.3590A>G (MSH6) | ENSP00000446475.1:p.Asn1197Ser | |
| ENST00000614496.4:c.3074A>G (MSH6) | ENSP00000477844.1:p.Asn1025Ser | |
| ENST00000622629.4:c.881A>G (MSH6) | ENSP00000482078.1:p.Asn294Ser | |
| NM_000179.2:c.3980A>G , LRG_219t1:c.3980A>G (MSH6) | NP_000170.1:p.Asn1327Ser | |
| NM_001281492.1:c.3590A>G (MSH6) | NP_001268421.1:p.Asn1197Ser | |
| NM_001281493.1:c.3074A>G (MSH6) | NP_001268422.1:p.Asn1025Ser | |
| NM_001281494.1:c.3074A>G (MSH6) | NP_001268423.1:p.Asn1025Ser | |
| XM_005264271.1:c.3683A>G (MSH6) | XP_005264328.1:p.Asn1228Ser | |
| XM_011532798.1:c.3797A>G (MSH6) | XP_011531100.1:p.Asn1266Ser | |
| XM_011532799.1:c.3683A>G (MSH6) | XP_011531101.1:p.Asn1228Ser | |
| XM_011532800.1:c.3683A>G (MSH6) | XP_011531102.1:p.Asn1228Ser | |
| XM_024452819.1:c.4073A>G (MSH6) | XP_024308587.1:p.Asn1358Ser | |
| XM_024452820.1:c.3890A>G (MSH6) | XP_024308588.1:p.Asn1297Ser | |
| XM_024452821.1:c.3776A>G (MSH6) | XP_024308589.1:p.Asn1259Ser | |
| XM_024452822.1:c.3167A>G (MSH6) | XP_024308590.1:p.Asn1056Ser | |
| NM_000179.3:c.3980A>G (MSH6) MANE Select | NP_000170.1:p.Asn1327Ser | |
| NM_001281492.2:c.3590A>G (MSH6) | NP_001268421.1:p.Asn1197Ser | |
| NM_001281493.2:c.3074A>G (MSH6) | NP_001268422.1:p.Asn1025Ser | |
| NM_001281494.2:c.3074A>G (MSH6) | NP_001268423.1:p.Asn1025Ser |