Linked Data
ClinVar Variation Id:
89476
ClinVar RCV Id:
RCV000131709
RCV000454725
RCV000662523
RCV000759868
RCV001082428
RCV001357732
RCV003448259
RCV003492403
dbSNP Id:
rs63750836
ExAC:
2:48033640 C / T
gnomAD v2:
2-48033640-C-T
gnomAD v3:
2-47806501-C-T
gnomAD v4:
2-47806501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806501C>T , CM000664.2:g.47806501C>T | GRCh38 |
| NC_000002.11:g.48033640C>T , CM000664.1:g.48033640C>T | GRCh37 |
| NC_000002.10:g.47887144C>T | NCBI36 |
| NG_007111.1:g.28355C>T , LRG_219:g.28355C>T | |
| NG_008397.1:g.104175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3554C>T (MSH6) | ENSP00000406248.2:p.Thr1185Met | |
| ENST00000420813.6:c.3554C>T (MSH6) | ENSP00000390382.2:p.Thr1185Met | |
| ENST00000455383.6:c.3554C>T (MSH6) | ENSP00000397484.2:p.Thr1185Met | |
| ENST00000700004.2:c.3467C>T (MSH6) | ENSP00000514752.2:p.Thr1156Met | |
| ENST00000699999.1:n.4525C>T (MSH6) | ||
| ENST00000700000.1:c.2285C>T (MSH6) | ENSP00000514749.1:p.Thr762Met | |
| ENST00000700002.1:c.3857C>T (MSH6) | ENSP00000514750.1:p.Thr1286Met | |
| ENST00000700003.1:c.1306C>T (MSH6) | ENSP00000514751.1:n.1306C>T | |
| ENST00000700004.1:c.2624C>T (MSH6) | ENSP00000514752.1:p.Thr875Met | |
| ENST00000700005.1:n.2702C>T (MSH6) | ||
| ENST00000700006.1:n.5009C>T (MSH6) | ||
| ENST00000700007.1:n.2446C>T (MSH6) | ||
| ENST00000700008.1:n.2113C>T (MSH6) | ||
| ENST00000700009.1:n.2515C>T (MSH6) | ||
| ENST00000700010.1:n.1260C>T (MSH6) | ||
| ENST00000700011.1:n.3145C>T (MSH6) | ||
| ENST00000682451.1:n.4247G>A (FBXO11) | ||
| ENST00000684712.1:n.4509G>A (FBXO11) | ||
| ENST00000234420.11:c.3851C>T (MSH6) MANE Select | ENSP00000234420.5:p.Thr1284Met | |
| ENST00000540021.6:c.3461C>T (MSH6) | ENSP00000446475.1:p.Thr1154Met | |
| ENST00000652107.1:c.3554C>T (MSH6) | ENSP00000498629.1:p.Thr1185Met | |
| ENST00000673637.1:c.3554C>T (MSH6) | ENSP00000501310.1:p.Thr1185Met | |
| ENST00000234420.9:c.3851C>T (MSH6) | ENSP00000234420.4:p.Thr1284Met | |
| ENST00000405808.5:c.169+1694G>A (FBXO11) | ENSP00000385127.1:n.169+1694G>A | |
| ENST00000434234.5:c.*124+1493G>A (FBXO11) | ENSP00000402692.1:n.*124+1493G>A | |
| ENST00000445503.5:c.*3198C>T (MSH6) | ENSP00000405294.1:n.*3198C>T | |
| ENST00000538136.1:c.2945C>T (MSH6) | ENSP00000438580.1:p.Thr982Met | |
| ENST00000540021.5:c.3461C>T (MSH6) | ENSP00000446475.1:p.Thr1154Met | |
| ENST00000614496.4:c.2945C>T (MSH6) | ENSP00000477844.1:p.Thr982Met | |
| ENST00000622629.4:c.752C>T (MSH6) | ENSP00000482078.1:p.Thr251Met | |
| NM_000179.2:c.3851C>T , LRG_219t1:c.3851C>T (MSH6) | NP_000170.1:p.Thr1284Met | |
| NM_001281492.1:c.3461C>T (MSH6) | NP_001268421.1:p.Thr1154Met | |
| NM_001281493.1:c.2945C>T (MSH6) | NP_001268422.1:p.Thr982Met | |
| NM_001281494.1:c.2945C>T (MSH6) | NP_001268423.1:p.Thr982Met | |
| XM_005264271.1:c.3554C>T (MSH6) | XP_005264328.1:p.Thr1185Met | |
| XM_011532798.1:c.3668C>T (MSH6) | XP_011531100.1:p.Thr1223Met | |
| XM_011532799.1:c.3554C>T (MSH6) | XP_011531101.1:p.Thr1185Met | |
| XM_011532800.1:c.3554C>T (MSH6) | XP_011531102.1:p.Thr1185Met | |
| XM_024452819.1:c.3944C>T (MSH6) | XP_024308587.1:p.Thr1315Met | |
| XM_024452820.1:c.3761C>T (MSH6) | XP_024308588.1:p.Thr1254Met | |
| XM_024452821.1:c.3647C>T (MSH6) | XP_024308589.1:p.Thr1216Met | |
| XM_024452822.1:c.3038C>T (MSH6) | XP_024308590.1:p.Thr1013Met | |
| NM_000179.3:c.3851C>T (MSH6) MANE Select | NP_000170.1:p.Thr1284Met | |
| NM_001281492.2:c.3461C>T (MSH6) | NP_001268421.1:p.Thr1154Met | |
| NM_001281493.2:c.2945C>T (MSH6) | NP_001268422.1:p.Thr982Met | |
| NM_001281494.2:c.2945C>T (MSH6) | NP_001268423.1:p.Thr982Met |