Linked Data
ClinVar Variation Id:
969540
ClinVar RCV Id:
RCV001244915
dbSNP Id:
rs766557450
ExAC:
2:48033394 A / C
gnomAD v2:
2-48033394-A-C
gnomAD v3:
2-47806255-A-C
gnomAD v4:
2-47806255-A-C
COSMIC:
COSM4703380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806255A>C , CM000664.2:g.47806255A>C | GRCh38 |
| NC_000002.11:g.48033394A>C , CM000664.1:g.48033394A>C | GRCh37 |
| NC_000002.10:g.47886898A>C | NCBI36 |
| NG_007111.1:g.28109A>C , LRG_219:g.28109A>C | |
| NG_008397.1:g.104421T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3401A>C (MSH6) | ENSP00000406248.2:p.Lys1134Thr | |
| ENST00000420813.6:c.3401A>C (MSH6) | ENSP00000390382.2:p.Lys1134Thr | |
| ENST00000455383.6:c.3401A>C (MSH6) | ENSP00000397484.2:p.Lys1134Thr | |
| ENST00000700004.2:c.3314A>C (MSH6) | ENSP00000514752.2:p.Lys1105Thr | |
| ENST00000699999.1:n.4372A>C (MSH6) | ||
| ENST00000700000.1:c.2132A>C (MSH6) | ENSP00000514749.1:p.Lys711Thr | |
| ENST00000700002.1:c.3704A>C (MSH6) | ENSP00000514750.1:p.Lys1235Thr | |
| ENST00000700003.1:c.1153A>C (MSH6) | ENSP00000514751.1:n.1153A>C | |
| ENST00000700004.1:c.2471A>C (MSH6) | ENSP00000514752.1:p.Lys824Thr | |
| ENST00000700005.1:n.2549A>C (MSH6) | ||
| ENST00000700006.1:n.4856A>C (MSH6) | ||
| ENST00000700007.1:n.2293A>C (MSH6) | ||
| ENST00000700008.1:n.1867A>C (MSH6) | ||
| ENST00000700009.1:n.2362A>C (MSH6) | ||
| ENST00000700010.1:n.1107A>C (MSH6) | ||
| ENST00000700011.1:n.2992A>C (MSH6) | ||
| ENST00000682451.1:n.4493T>G (FBXO11) | ||
| ENST00000684712.1:n.4755T>G (FBXO11) | ||
| ENST00000234420.11:c.3698A>C (MSH6) MANE Select | ENSP00000234420.5:p.Lys1233Thr | |
| ENST00000540021.6:c.3308A>C (MSH6) | ENSP00000446475.1:p.Lys1103Thr | |
| ENST00000652107.1:c.3401A>C (MSH6) | ENSP00000498629.1:p.Lys1134Thr | |
| ENST00000673637.1:c.3401A>C (MSH6) | ENSP00000501310.1:p.Lys1134Thr | |
| ENST00000234420.9:c.3698A>C (MSH6) | ENSP00000234420.4:p.Lys1233Thr | |
| ENST00000405808.5:c.169+1940T>G (FBXO11) | ENSP00000385127.1:n.169+1940T>G | |
| ENST00000434234.5:c.*124+1739T>G (FBXO11) | ENSP00000402692.1:n.*124+1739T>G | |
| ENST00000445503.5:c.*3045A>C (MSH6) | ENSP00000405294.1:n.*3045A>C | |
| ENST00000538136.1:c.2792A>C (MSH6) | ENSP00000438580.1:p.Lys931Thr | |
| ENST00000540021.5:c.3308A>C (MSH6) | ENSP00000446475.1:p.Lys1103Thr | |
| ENST00000614496.4:c.2792A>C (MSH6) | ENSP00000477844.1:p.Lys931Thr | |
| ENST00000622629.4:c.602A>C (MSH6) | ENSP00000482078.1:p.Lys201Thr | |
| NM_000179.2:c.3698A>C , LRG_219t1:c.3698A>C (MSH6) | NP_000170.1:p.Lys1233Thr | |
| NM_001281492.1:c.3308A>C (MSH6) | NP_001268421.1:p.Lys1103Thr | |
| NM_001281493.1:c.2792A>C (MSH6) | NP_001268422.1:p.Lys931Thr | |
| NM_001281494.1:c.2792A>C (MSH6) | NP_001268423.1:p.Lys931Thr | |
| XM_005264271.1:c.3401A>C (MSH6) | XP_005264328.1:p.Lys1134Thr | |
| XM_011532798.1:c.3515A>C (MSH6) | XP_011531100.1:p.Lys1172Thr | |
| XM_011532799.1:c.3401A>C (MSH6) | XP_011531101.1:p.Lys1134Thr | |
| XM_011532800.1:c.3401A>C (MSH6) | XP_011531102.1:p.Lys1134Thr | |
| XM_024452819.1:c.3698A>C (MSH6) | XP_024308587.1:p.Lys1233Thr | |
| XM_024452820.1:c.3515A>C (MSH6) | XP_024308588.1:p.Lys1172Thr | |
| XM_024452821.1:c.3401A>C (MSH6) | XP_024308589.1:p.Lys1134Thr | |
| XM_024452822.1:c.2792A>C (MSH6) | XP_024308590.1:p.Lys931Thr | |
| NM_000179.3:c.3698A>C (MSH6) MANE Select | NP_000170.1:p.Lys1233Thr | |
| NM_001281492.2:c.3308A>C (MSH6) | NP_001268421.1:p.Lys1103Thr | |
| NM_001281493.2:c.2792A>C (MSH6) | NP_001268422.1:p.Lys931Thr | |
| NM_001281494.2:c.2792A>C (MSH6) | NP_001268423.1:p.Lys931Thr |