Linked Data
ClinVar Variation Id:
455253
dbSNP Id:
rs781676597
ExAC:
2:48030780 G / C
gnomAD v2:
2-48030780-G-C
gnomAD v3:
2-47803641-G-C
gnomAD v4:
2-47803641-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47803641G>C , CM000664.2:g.47803641G>C | GRCh38 |
| NC_000002.11:g.48030780G>C , CM000664.1:g.48030780G>C | GRCh37 |
| NC_000002.10:g.47884284G>C | NCBI36 |
| NG_007111.1:g.25495G>C , LRG_219:g.25495G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3097G>C (MSH6) | ENSP00000406248.2:p.Val1033Leu | |
| ENST00000420813.6:c.3097G>C (MSH6) | ENSP00000390382.2:p.Val1033Leu | |
| ENST00000455383.6:c.3097G>C (MSH6) | ENSP00000397484.2:p.Val1033Leu | |
| ENST00000700004.2:c.3173-1977G>C (MSH6) | ENSP00000514752.2:n.3173-1977G>C | |
| ENST00000699999.1:n.3478G>C (MSH6) | ||
| ENST00000700000.1:c.1828G>C (MSH6) | ENSP00000514749.1:p.Val610Leu | |
| ENST00000700002.1:c.3400G>C (MSH6) | ENSP00000514750.1:p.Val1134Leu | |
| ENST00000700003.1:c.849G>C (MSH6) | ENSP00000514751.1:n.849G>C | |
| ENST00000700004.1:c.2330-1977G>C (MSH6) | ENSP00000514752.1:n.2330-1977G>C | |
| ENST00000700005.1:n.2245G>C (MSH6) | ||
| ENST00000700006.1:n.2242G>C (MSH6) | ||
| ENST00000700007.1:n.1399G>C (MSH6) | ||
| ENST00000700008.1:n.973G>C (MSH6) | ||
| ENST00000700009.1:n.972G>C (MSH6) | ||
| ENST00000700010.1:n.803G>C (MSH6) | ||
| ENST00000700011.1:n.874G>C (MSH6) | ||
| ENST00000234420.11:c.3394G>C (MSH6) MANE Select | ENSP00000234420.5:p.Val1132Leu | |
| ENST00000540021.6:c.3004G>C (MSH6) | ENSP00000446475.1:p.Val1002Leu | |
| ENST00000652107.1:c.3097G>C (MSH6) | ENSP00000498629.1:p.Val1033Leu | |
| ENST00000673637.1:c.3097G>C (MSH6) | ENSP00000501310.1:p.Val1033Leu | |
| ENST00000234420.9:c.3394G>C (MSH6) | ENSP00000234420.4:p.Val1132Leu | |
| ENST00000405808.5:c.169+4554C>G (FBXO11) | ENSP00000385127.1:n.169+4554C>G | |
| ENST00000434234.5:c.*124+4353C>G (FBXO11) | ENSP00000402692.1:n.*124+4353C>G | |
| ENST00000445503.5:c.*2741G>C (MSH6) | ENSP00000405294.1:n.*2741G>C | |
| ENST00000538136.1:c.2488G>C (MSH6) | ENSP00000438580.1:p.Val830Leu | |
| ENST00000540021.5:c.3004G>C (MSH6) | ENSP00000446475.1:p.Val1002Leu | |
| ENST00000614496.4:c.2488G>C (MSH6) | ENSP00000477844.1:p.Val830Leu | |
| ENST00000622629.4:c.297G>C (MSH6) | ENSP00000482078.1:p.Leu99Phe | |
| NM_000179.2:c.3394G>C , LRG_219t1:c.3394G>C (MSH6) | NP_000170.1:p.Val1132Leu | |
| NM_001281492.1:c.3004G>C (MSH6) | NP_001268421.1:p.Val1002Leu | |
| NM_001281493.1:c.2488G>C (MSH6) | NP_001268422.1:p.Val830Leu | |
| NM_001281494.1:c.2488G>C (MSH6) | NP_001268423.1:p.Val830Leu | |
| XM_005264271.1:c.3097G>C (MSH6) | XP_005264328.1:p.Val1033Leu | |
| XM_011532798.1:c.3211G>C (MSH6) | XP_011531100.1:p.Val1071Leu | |
| XM_011532799.1:c.3097G>C (MSH6) | XP_011531101.1:p.Val1033Leu | |
| XM_011532800.1:c.3097G>C (MSH6) | XP_011531102.1:p.Val1033Leu | |
| XM_024452819.1:c.3394G>C (MSH6) | XP_024308587.1:p.Val1132Leu | |
| XM_024452820.1:c.3211G>C (MSH6) | XP_024308588.1:p.Val1071Leu | |
| XM_024452821.1:c.3097G>C (MSH6) | XP_024308589.1:p.Val1033Leu | |
| XM_024452822.1:c.2488G>C (MSH6) | XP_024308590.1:p.Val830Leu | |
| NM_000179.3:c.3394G>C (MSH6) MANE Select | NP_000170.1:p.Val1132Leu | |
| NM_001281492.2:c.3004G>C (MSH6) | NP_001268421.1:p.Val1002Leu | |
| NM_001281493.2:c.2488G>C (MSH6) | NP_001268422.1:p.Val830Leu | |
| NM_001281494.2:c.2488G>C (MSH6) | NP_001268423.1:p.Val830Leu |