Linked Data
ClinVar Variation Id:
428382
dbSNP Id:
rs1051564593
gnomAD v2:
2-48033757-T-C
gnomAD v3:
2-47806618-T-C
gnomAD v4:
2-47806618-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806618T>C , CM000664.2:g.47806618T>C | GRCh38 |
| NC_000002.11:g.48033757T>C , CM000664.1:g.48033757T>C | GRCh37 |
| NC_000002.10:g.47887261T>C | NCBI36 |
| NG_007111.1:g.28472T>C , LRG_219:g.28472T>C | |
| NG_008397.1:g.104058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3671T>C (MSH6) | ENSP00000406248.2:p.Phe1224Ser | |
| ENST00000420813.6:c.3671T>C (MSH6) | ENSP00000390382.2:p.Phe1224Ser | |
| ENST00000455383.6:c.3671T>C (MSH6) | ENSP00000397484.2:p.Phe1224Ser | |
| ENST00000700004.2:c.3584T>C (MSH6) | ENSP00000514752.2:p.Phe1195Ser | |
| ENST00000699999.1:n.4642T>C (MSH6) | ||
| ENST00000700000.1:c.2402T>C (MSH6) | ENSP00000514749.1:p.Phe801Ser | |
| ENST00000700002.1:c.3974T>C (MSH6) | ENSP00000514750.1:p.Phe1325Ser | |
| ENST00000700003.1:c.1423T>C (MSH6) | ENSP00000514751.1:n.1423T>C | |
| ENST00000700004.1:c.2741T>C (MSH6) | ENSP00000514752.1:p.Phe914Ser | |
| ENST00000700005.1:n.2819T>C (MSH6) | ||
| ENST00000700006.1:n.5126T>C (MSH6) | ||
| ENST00000700007.1:n.2563T>C (MSH6) | ||
| ENST00000700008.1:n.2230T>C (MSH6) | ||
| ENST00000700009.1:n.2632T>C (MSH6) | ||
| ENST00000700010.1:n.1377T>C (MSH6) | ||
| ENST00000700011.1:n.3262T>C (MSH6) | ||
| ENST00000682451.1:n.4130A>G (FBXO11) | ||
| ENST00000684712.1:n.4392A>G (FBXO11) | ||
| ENST00000234420.11:c.3968T>C (MSH6) MANE Select | ENSP00000234420.5:p.Phe1323Ser | |
| ENST00000540021.6:c.3578T>C (MSH6) | ENSP00000446475.1:p.Phe1193Ser | |
| ENST00000652107.1:c.3671T>C (MSH6) | ENSP00000498629.1:p.Phe1224Ser | |
| ENST00000673637.1:c.3671T>C (MSH6) | ENSP00000501310.1:p.Phe1224Ser | |
| ENST00000234420.9:c.3968T>C (MSH6) | ENSP00000234420.4:p.Phe1323Ser | |
| ENST00000405808.5:c.169+1577A>G (FBXO11) | ENSP00000385127.1:n.169+1577A>G | |
| ENST00000434234.5:c.*124+1376A>G (FBXO11) | ENSP00000402692.1:n.*124+1376A>G | |
| ENST00000445503.5:c.*3315T>C (MSH6) | ENSP00000405294.1:n.*3315T>C | |
| ENST00000538136.1:c.3062T>C (MSH6) | ENSP00000438580.1:p.Phe1021Ser | |
| ENST00000540021.5:c.3578T>C (MSH6) | ENSP00000446475.1:p.Phe1193Ser | |
| ENST00000614496.4:c.3062T>C (MSH6) | ENSP00000477844.1:p.Phe1021Ser | |
| ENST00000622629.4:c.869T>C (MSH6) | ENSP00000482078.1:p.Phe290Ser | |
| NM_000179.2:c.3968T>C , LRG_219t1:c.3968T>C (MSH6) | NP_000170.1:p.Phe1323Ser | |
| NM_001281492.1:c.3578T>C (MSH6) | NP_001268421.1:p.Phe1193Ser | |
| NM_001281493.1:c.3062T>C (MSH6) | NP_001268422.1:p.Phe1021Ser | |
| NM_001281494.1:c.3062T>C (MSH6) | NP_001268423.1:p.Phe1021Ser | |
| XM_005264271.1:c.3671T>C (MSH6) | XP_005264328.1:p.Phe1224Ser | |
| XM_011532798.1:c.3785T>C (MSH6) | XP_011531100.1:p.Phe1262Ser | |
| XM_011532799.1:c.3671T>C (MSH6) | XP_011531101.1:p.Phe1224Ser | |
| XM_011532800.1:c.3671T>C (MSH6) | XP_011531102.1:p.Phe1224Ser | |
| XM_024452819.1:c.4061T>C (MSH6) | XP_024308587.1:p.Phe1354Ser | |
| XM_024452820.1:c.3878T>C (MSH6) | XP_024308588.1:p.Phe1293Ser | |
| XM_024452821.1:c.3764T>C (MSH6) | XP_024308589.1:p.Phe1255Ser | |
| XM_024452822.1:c.3155T>C (MSH6) | XP_024308590.1:p.Phe1052Ser | |
| NM_000179.3:c.3968T>C (MSH6) MANE Select | NP_000170.1:p.Phe1323Ser | |
| NM_001281492.2:c.3578T>C (MSH6) | NP_001268421.1:p.Phe1193Ser | |
| NM_001281493.2:c.3062T>C (MSH6) | NP_001268422.1:p.Phe1021Ser | |
| NM_001281494.2:c.3062T>C (MSH6) | NP_001268423.1:p.Phe1021Ser |