Linked Data
ClinVar Variation Id:
1349278
ClinVar RCV Id:
RCV002046866
dbSNP Id:
rs757963162
gnomAD v4:
2-47806458-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806458A>C , CM000664.2:g.47806458A>C | GRCh38 |
| NC_000002.11:g.48033597A>C , CM000664.1:g.48033597A>C | GRCh37 |
| NC_000002.10:g.47887101A>C | NCBI36 |
| NG_007111.1:g.28312A>C , LRG_219:g.28312A>C | |
| NG_008397.1:g.104218T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3511A>C (MSH6) | ENSP00000406248.2:p.Met1171Leu | |
| ENST00000420813.6:c.3511A>C (MSH6) | ENSP00000390382.2:p.Met1171Leu | |
| ENST00000455383.6:c.3511A>C (MSH6) | ENSP00000397484.2:p.Met1171Leu | |
| ENST00000700004.2:c.3424A>C (MSH6) | ENSP00000514752.2:p.Met1142Leu | |
| ENST00000699999.1:n.4482A>C (MSH6) | ||
| ENST00000700000.1:c.2242A>C (MSH6) | ENSP00000514749.1:p.Met748Leu | |
| ENST00000700002.1:c.3814A>C (MSH6) | ENSP00000514750.1:p.Met1272Leu | |
| ENST00000700003.1:c.1263A>C (MSH6) | ENSP00000514751.1:n.1263A>C | |
| ENST00000700004.1:c.2581A>C (MSH6) | ENSP00000514752.1:p.Met861Leu | |
| ENST00000700005.1:n.2659A>C (MSH6) | ||
| ENST00000700006.1:n.4966A>C (MSH6) | ||
| ENST00000700007.1:n.2403A>C (MSH6) | ||
| ENST00000700008.1:n.2070A>C (MSH6) | ||
| ENST00000700009.1:n.2472A>C (MSH6) | ||
| ENST00000700010.1:n.1217A>C (MSH6) | ||
| ENST00000700011.1:n.3102A>C (MSH6) | ||
| ENST00000682451.1:n.4290T>G (FBXO11) | ||
| ENST00000684712.1:n.4552T>G (FBXO11) | ||
| ENST00000234420.11:c.3808A>C (MSH6) MANE Select | ENSP00000234420.5:p.Met1270Leu | |
| ENST00000540021.6:c.3418A>C (MSH6) | ENSP00000446475.1:p.Met1140Leu | |
| ENST00000652107.1:c.3511A>C (MSH6) | ENSP00000498629.1:p.Met1171Leu | |
| ENST00000673637.1:c.3511A>C (MSH6) | ENSP00000501310.1:p.Met1171Leu | |
| ENST00000234420.9:c.3808A>C (MSH6) | ENSP00000234420.4:p.Met1270Leu | |
| ENST00000405808.5:c.169+1737T>G (FBXO11) | ENSP00000385127.1:n.169+1737T>G | |
| ENST00000434234.5:c.*124+1536T>G (FBXO11) | ENSP00000402692.1:n.*124+1536T>G | |
| ENST00000445503.5:c.*3155A>C (MSH6) | ENSP00000405294.1:n.*3155A>C | |
| ENST00000538136.1:c.2902A>C (MSH6) | ENSP00000438580.1:p.Met968Leu | |
| ENST00000540021.5:c.3418A>C (MSH6) | ENSP00000446475.1:p.Met1140Leu | |
| ENST00000614496.4:c.2902A>C (MSH6) | ENSP00000477844.1:p.Met968Leu | |
| ENST00000622629.4:c.709A>C (MSH6) | ENSP00000482078.1:p.Met237Leu | |
| NM_000179.2:c.3808A>C , LRG_219t1:c.3808A>C (MSH6) | NP_000170.1:p.Met1270Leu | |
| NM_001281492.1:c.3418A>C (MSH6) | NP_001268421.1:p.Met1140Leu | |
| NM_001281493.1:c.2902A>C (MSH6) | NP_001268422.1:p.Met968Leu | |
| NM_001281494.1:c.2902A>C (MSH6) | NP_001268423.1:p.Met968Leu | |
| XM_005264271.1:c.3511A>C (MSH6) | XP_005264328.1:p.Met1171Leu | |
| XM_011532798.1:c.3625A>C (MSH6) | XP_011531100.1:p.Met1209Leu | |
| XM_011532799.1:c.3511A>C (MSH6) | XP_011531101.1:p.Met1171Leu | |
| XM_011532800.1:c.3511A>C (MSH6) | XP_011531102.1:p.Met1171Leu | |
| XM_024452819.1:c.3901A>C (MSH6) | XP_024308587.1:p.Met1301Leu | |
| XM_024452820.1:c.3718A>C (MSH6) | XP_024308588.1:p.Met1240Leu | |
| XM_024452821.1:c.3604A>C (MSH6) | XP_024308589.1:p.Met1202Leu | |
| XM_024452822.1:c.2995A>C (MSH6) | XP_024308590.1:p.Met999Leu | |
| NM_000179.3:c.3808A>C (MSH6) MANE Select | NP_000170.1:p.Met1270Leu | |
| NM_001281492.2:c.3418A>C (MSH6) | NP_001268421.1:p.Met1140Leu | |
| NM_001281493.2:c.2902A>C (MSH6) | NP_001268422.1:p.Met968Leu | |
| NM_001281494.2:c.2902A>C (MSH6) | NP_001268423.1:p.Met968Leu |