Linked Data
dbSNP Id:
rs3136367
gnomAD v2:
2-48033551-C-T
gnomAD v3:
2-47806412-C-T
gnomAD v4:
2-47806412-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806412C>T , CM000664.2:g.47806412C>T | GRCh38 |
| NC_000002.11:g.48033551C>T , CM000664.1:g.48033551C>T | GRCh37 |
| NC_000002.10:g.47887055C>T | NCBI36 |
| NG_007111.1:g.28266C>T , LRG_219:g.28266C>T | |
| NG_008397.1:g.104264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3505-40C>T (MSH6) | ENSP00000406248.2:n.3505-40C>T | |
| ENST00000420813.6:c.3505-40C>T (MSH6) | ENSP00000390382.2:n.3505-40C>T | |
| ENST00000455383.6:c.3505-40C>T (MSH6) | ENSP00000397484.2:n.3505-40C>T | |
| ENST00000700004.2:c.3418-40C>T (MSH6) | ENSP00000514752.2:n.3418-40C>T | |
| ENST00000699999.1:n.4476-40C>T (MSH6) | ||
| ENST00000700000.1:c.2236-40C>T (MSH6) | ENSP00000514749.1:n.2236-40C>T | |
| ENST00000700002.1:c.3808-40C>T (MSH6) | ENSP00000514750.1:n.3808-40C>T | |
| ENST00000700003.1:c.1257-40C>T (MSH6) | ENSP00000514751.1:n.1257-40C>T | |
| ENST00000700004.1:c.2575-40C>T (MSH6) | ENSP00000514752.1:n.2575-40C>T | |
| ENST00000700005.1:n.2653-40C>T (MSH6) | ||
| ENST00000700006.1:n.4960-40C>T (MSH6) | ||
| ENST00000700007.1:n.2397-40C>T (MSH6) | ||
| ENST00000700008.1:n.2024C>T (MSH6) | ||
| ENST00000700009.1:n.2466-40C>T (MSH6) | ||
| ENST00000700010.1:n.1211-40C>T (MSH6) | ||
| ENST00000700011.1:n.3096-40C>T (MSH6) | ||
| ENST00000682451.1:n.4336G>A (FBXO11) | ||
| ENST00000684712.1:n.4598G>A (FBXO11) | ||
| ENST00000234420.11:c.3802-40C>T (MSH6) MANE Select | ENSP00000234420.5:n.3802-40C>T | |
| ENST00000540021.6:c.3412-40C>T (MSH6) | ENSP00000446475.1:n.3412-40C>T | |
| ENST00000652107.1:c.3505-40C>T (MSH6) | ENSP00000498629.1:n.3505-40C>T | |
| ENST00000673637.1:c.3505-40C>T (MSH6) | ENSP00000501310.1:n.3505-40C>T | |
| ENST00000234420.9:c.3802-40C>T (MSH6) | ENSP00000234420.4:n.3802-40C>T | |
| ENST00000405808.5:c.169+1783G>A (FBXO11) | ENSP00000385127.1:n.169+1783G>A | |
| ENST00000434234.5:c.*124+1582G>A (FBXO11) | ENSP00000402692.1:n.*124+1582G>A | |
| ENST00000445503.5:c.*3149-40C>T (MSH6) | ENSP00000405294.1:n.*3149-40C>T | |
| ENST00000538136.1:c.2896-40C>T (MSH6) | ENSP00000438580.1:n.2896-40C>T | |
| ENST00000540021.5:c.3412-40C>T (MSH6) | ENSP00000446475.1:n.3412-40C>T | |
| ENST00000614496.4:c.2896-40C>T (MSH6) | ENSP00000477844.1:n.2896-40C>T | |
| ENST00000622629.4:c.703-40C>T (MSH6) | ENSP00000482078.1:n.703-40C>T | |
| NM_000179.2:c.3802-40C>T , LRG_219t1:c.3802-40C>T (MSH6) | NP_000170.1:n.3802-40C>T | |
| NM_001281492.1:c.3412-40C>T (MSH6) | NP_001268421.1:n.3412-40C>T | |
| NM_001281493.1:c.2896-40C>T (MSH6) | NP_001268422.1:n.2896-40C>T | |
| NM_001281494.1:c.2896-40C>T (MSH6) | NP_001268423.1:n.2896-40C>T | |
| XM_005264271.1:c.3505-40C>T (MSH6) | XP_005264328.1:n.3505-40C>T | |
| XM_011532798.1:c.3619-40C>T (MSH6) | XP_011531100.1:n.3619-40C>T | |
| XM_011532799.1:c.3505-40C>T (MSH6) | XP_011531101.1:n.3505-40C>T | |
| XM_011532800.1:c.3505-40C>T (MSH6) | XP_011531102.1:n.3505-40C>T | |
| XM_024452819.1:c.3855C>T (MSH6) | XP_024308587.1:p.Leu1285= | |
| XM_024452820.1:c.3672C>T (MSH6) | XP_024308588.1:p.Leu1224= | |
| XM_024452821.1:c.3558C>T (MSH6) | XP_024308589.1:p.Leu1186= | |
| XM_024452822.1:c.2949C>T (MSH6) | XP_024308590.1:p.Leu983= | |
| NM_000179.3:c.3802-40C>T (MSH6) MANE Select | NP_000170.1:n.3802-40C>T | |
| NM_001281492.2:c.3412-40C>T (MSH6) | NP_001268421.1:n.3412-40C>T | |
| NM_001281493.2:c.2896-40C>T (MSH6) | NP_001268422.1:n.2896-40C>T | |
| NM_001281494.2:c.2896-40C>T (MSH6) | NP_001268423.1:n.2896-40C>T |