Linked Data
ClinVar Variation Id:
127593
dbSNP Id:
rs147852216
ExAC:
2:48033484 G / A
gnomAD v2:
2-48033484-G-A
gnomAD v3:
2-47806345-G-A
gnomAD v4:
2-47806345-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806345G>A , CM000664.2:g.47806345G>A | GRCh38 |
| NC_000002.11:g.48033484G>A , CM000664.1:g.48033484G>A | GRCh37 |
| NC_000002.10:g.47886988G>A | NCBI36 |
| NG_007111.1:g.28199G>A , LRG_219:g.28199G>A | |
| NG_008397.1:g.104331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3491G>A (MSH6) | ENSP00000406248.2:p.Arg1164His | |
| ENST00000420813.6:c.3491G>A (MSH6) | ENSP00000390382.2:p.Arg1164His | |
| ENST00000455383.6:c.3491G>A (MSH6) | ENSP00000397484.2:p.Arg1164His | |
| ENST00000700004.2:c.3404G>A (MSH6) | ENSP00000514752.2:p.Arg1135His | |
| ENST00000699999.1:n.4462G>A (MSH6) | ||
| ENST00000700000.1:c.2222G>A (MSH6) | ENSP00000514749.1:p.Arg741His | |
| ENST00000700002.1:c.3794G>A (MSH6) | ENSP00000514750.1:p.Arg1265His | |
| ENST00000700003.1:c.1243G>A (MSH6) | ENSP00000514751.1:n.1243G>A | |
| ENST00000700004.1:c.2561G>A (MSH6) | ENSP00000514752.1:p.Arg854His | |
| ENST00000700005.1:n.2639G>A (MSH6) | ||
| ENST00000700006.1:n.4946G>A (MSH6) | ||
| ENST00000700007.1:n.2383G>A (MSH6) | ||
| ENST00000700008.1:n.1957G>A (MSH6) | ||
| ENST00000700009.1:n.2452G>A (MSH6) | ||
| ENST00000700010.1:n.1197G>A (MSH6) | ||
| ENST00000700011.1:n.3082G>A (MSH6) | ||
| ENST00000682451.1:n.4403C>T (FBXO11) | ||
| ENST00000684712.1:n.4665C>T (FBXO11) | ||
| ENST00000234420.11:c.3788G>A (MSH6) MANE Select | ENSP00000234420.5:p.Arg1263His | |
| ENST00000540021.6:c.3398G>A (MSH6) | ENSP00000446475.1:p.Arg1133His | |
| ENST00000652107.1:c.3491G>A (MSH6) | ENSP00000498629.1:p.Arg1164His | |
| ENST00000673637.1:c.3491G>A (MSH6) | ENSP00000501310.1:p.Arg1164His | |
| ENST00000234420.9:c.3788G>A (MSH6) | ENSP00000234420.4:p.Arg1263His | |
| ENST00000405808.5:c.169+1850C>T (FBXO11) | ENSP00000385127.1:n.169+1850C>T | |
| ENST00000434234.5:c.*124+1649C>T (FBXO11) | ENSP00000402692.1:n.*124+1649C>T | |
| ENST00000445503.5:c.*3135G>A (MSH6) | ENSP00000405294.1:n.*3135G>A | |
| ENST00000538136.1:c.2882G>A (MSH6) | ENSP00000438580.1:p.Arg961His | |
| ENST00000540021.5:c.3398G>A (MSH6) | ENSP00000446475.1:p.Arg1133His | |
| ENST00000614496.4:c.2882G>A (MSH6) | ENSP00000477844.1:p.Arg961His | |
| ENST00000622629.4:c.690G>A (MSH6) | ENSP00000482078.1:p.Ala230= | |
| NM_000179.2:c.3788G>A , LRG_219t1:c.3788G>A (MSH6) | NP_000170.1:p.Arg1263His | |
| NM_001281492.1:c.3398G>A (MSH6) | NP_001268421.1:p.Arg1133His | |
| NM_001281493.1:c.2882G>A (MSH6) | NP_001268422.1:p.Arg961His | |
| NM_001281494.1:c.2882G>A (MSH6) | NP_001268423.1:p.Arg961His | |
| XM_005264271.1:c.3491G>A (MSH6) | XP_005264328.1:p.Arg1164His | |
| XM_011532798.1:c.3605G>A (MSH6) | XP_011531100.1:p.Arg1202His | |
| XM_011532799.1:c.3491G>A (MSH6) | XP_011531101.1:p.Arg1164His | |
| XM_011532800.1:c.3491G>A (MSH6) | XP_011531102.1:p.Arg1164His | |
| XM_024452819.1:c.3788G>A (MSH6) | XP_024308587.1:p.Arg1263His | |
| XM_024452820.1:c.3605G>A (MSH6) | XP_024308588.1:p.Arg1202His | |
| XM_024452821.1:c.3491G>A (MSH6) | XP_024308589.1:p.Arg1164His | |
| XM_024452822.1:c.2882G>A (MSH6) | XP_024308590.1:p.Arg961His | |
| NM_000179.3:c.3788G>A (MSH6) MANE Select | NP_000170.1:p.Arg1263His | |
| NM_001281492.2:c.3398G>A (MSH6) | NP_001268421.1:p.Arg1133His | |
| NM_001281493.2:c.2882G>A (MSH6) | NP_001268422.1:p.Arg961His | |
| NM_001281494.2:c.2882G>A (MSH6) | NP_001268423.1:p.Arg961His |