Linked Data
ClinVar Variation Id:
234450
dbSNP Id:
rs756216566
ExAC:
2:48033768 A / C
gnomAD v2:
2-48033768-A-C
gnomAD v4:
2-47806629-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806629A>C , CM000664.2:g.47806629A>C | GRCh38 |
| NC_000002.11:g.48033768A>C , CM000664.1:g.48033768A>C | GRCh37 |
| NC_000002.10:g.47887272A>C | NCBI36 |
| NG_007111.1:g.28483A>C , LRG_219:g.28483A>C | |
| NG_008397.1:g.104047T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3682A>C (MSH6) | ENSP00000406248.2:p.Asn1228His | |
| ENST00000420813.6:c.3682A>C (MSH6) | ENSP00000390382.2:p.Asn1228His | |
| ENST00000455383.6:c.3682A>C (MSH6) | ENSP00000397484.2:p.Asn1228His | |
| ENST00000700004.2:c.3595A>C (MSH6) | ENSP00000514752.2:p.Asn1199His | |
| ENST00000699999.1:n.4653A>C (MSH6) | ||
| ENST00000700000.1:c.2413A>C (MSH6) | ENSP00000514749.1:p.Asn805His | |
| ENST00000700002.1:c.3985A>C (MSH6) | ENSP00000514750.1:p.Asn1329His | |
| ENST00000700003.1:c.1434A>C (MSH6) | ENSP00000514751.1:n.1434A>C | |
| ENST00000700004.1:c.2752A>C (MSH6) | ENSP00000514752.1:p.Asn918His | |
| ENST00000700005.1:n.2830A>C (MSH6) | ||
| ENST00000700006.1:n.5137A>C (MSH6) | ||
| ENST00000700007.1:n.2574A>C (MSH6) | ||
| ENST00000700008.1:n.2241A>C (MSH6) | ||
| ENST00000700009.1:n.2643A>C (MSH6) | ||
| ENST00000700010.1:n.1388A>C (MSH6) | ||
| ENST00000700011.1:n.3273A>C (MSH6) | ||
| ENST00000682451.1:n.4119T>G (FBXO11) | ||
| ENST00000684712.1:n.4381T>G (FBXO11) | ||
| ENST00000234420.11:c.3979A>C (MSH6) MANE Select | ENSP00000234420.5:p.Asn1327His | |
| ENST00000540021.6:c.3589A>C (MSH6) | ENSP00000446475.1:p.Asn1197His | |
| ENST00000652107.1:c.3682A>C (MSH6) | ENSP00000498629.1:p.Asn1228His | |
| ENST00000673637.1:c.3682A>C (MSH6) | ENSP00000501310.1:p.Asn1228His | |
| ENST00000234420.9:c.3979A>C (MSH6) | ENSP00000234420.4:p.Asn1327His | |
| ENST00000405808.5:c.169+1566T>G (FBXO11) | ENSP00000385127.1:n.169+1566T>G | |
| ENST00000434234.5:c.*124+1365T>G (FBXO11) | ENSP00000402692.1:n.*124+1365T>G | |
| ENST00000445503.5:c.*3326A>C (MSH6) | ENSP00000405294.1:n.*3326A>C | |
| ENST00000538136.1:c.3073A>C (MSH6) | ENSP00000438580.1:p.Asn1025His | |
| ENST00000540021.5:c.3589A>C (MSH6) | ENSP00000446475.1:p.Asn1197His | |
| ENST00000614496.4:c.3073A>C (MSH6) | ENSP00000477844.1:p.Asn1025His | |
| ENST00000622629.4:c.880A>C (MSH6) | ENSP00000482078.1:p.Asn294His | |
| NM_000179.2:c.3979A>C , LRG_219t1:c.3979A>C (MSH6) | NP_000170.1:p.Asn1327His | |
| NM_001281492.1:c.3589A>C (MSH6) | NP_001268421.1:p.Asn1197His | |
| NM_001281493.1:c.3073A>C (MSH6) | NP_001268422.1:p.Asn1025His | |
| NM_001281494.1:c.3073A>C (MSH6) | NP_001268423.1:p.Asn1025His | |
| XM_005264271.1:c.3682A>C (MSH6) | XP_005264328.1:p.Asn1228His | |
| XM_011532798.1:c.3796A>C (MSH6) | XP_011531100.1:p.Asn1266His | |
| XM_011532799.1:c.3682A>C (MSH6) | XP_011531101.1:p.Asn1228His | |
| XM_011532800.1:c.3682A>C (MSH6) | XP_011531102.1:p.Asn1228His | |
| XM_024452819.1:c.4072A>C (MSH6) | XP_024308587.1:p.Asn1358His | |
| XM_024452820.1:c.3889A>C (MSH6) | XP_024308588.1:p.Asn1297His | |
| XM_024452821.1:c.3775A>C (MSH6) | XP_024308589.1:p.Asn1259His | |
| XM_024452822.1:c.3166A>C (MSH6) | XP_024308590.1:p.Asn1056His | |
| NM_000179.3:c.3979A>C (MSH6) MANE Select | NP_000170.1:p.Asn1327His | |
| NM_001281492.2:c.3589A>C (MSH6) | NP_001268421.1:p.Asn1197His | |
| NM_001281493.2:c.3073A>C (MSH6) | NP_001268422.1:p.Asn1025His | |
| NM_001281494.2:c.3073A>C (MSH6) | NP_001268423.1:p.Asn1025His |