Linked Data
ClinVar Variation Id:
141188
ClinVar RCV Id:
RCV000129582
RCV000411815
RCV000479516
RCV000780465
RCV000810760
RCV003460896
RCV003997512
dbSNP Id:
rs369778514
ExAC:
2:48032804 A / G
gnomAD v2:
2-48032804-A-G
gnomAD v3:
2-47805665-A-G
gnomAD v4:
2-47805665-A-G
PubMed:
PMID:23621914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805665A>G , CM000664.2:g.47805665A>G | GRCh38 |
| NC_000002.11:g.48032804A>G , CM000664.1:g.48032804A>G | GRCh37 |
| NC_000002.10:g.47886308A>G | NCBI36 |
| NG_007111.1:g.27519A>G , LRG_219:g.27519A>G | |
| NG_008397.1:g.105011T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3307A>G (MSH6) | ENSP00000406248.2:p.Met1103Val | |
| ENST00000420813.6:c.3307A>G (MSH6) | ENSP00000390382.2:p.Met1103Val | |
| ENST00000455383.6:c.3307A>G (MSH6) | ENSP00000397484.2:p.Met1103Val | |
| ENST00000700004.2:c.3220A>G (MSH6) | ENSP00000514752.2:p.Met1074Val | |
| ENST00000699999.1:n.4278A>G (MSH6) | ||
| ENST00000700000.1:c.2038A>G (MSH6) | ENSP00000514749.1:p.Met680Val | |
| ENST00000700002.1:c.3610A>G (MSH6) | ENSP00000514750.1:p.Met1204Val | |
| ENST00000700003.1:c.1059A>G (MSH6) | ENSP00000514751.1:n.1059A>G | |
| ENST00000700004.1:c.2377A>G (MSH6) | ENSP00000514752.1:p.Met793Val | |
| ENST00000700005.1:n.2455A>G (MSH6) | ||
| ENST00000700006.1:n.4266A>G (MSH6) | ||
| ENST00000700007.1:n.2199A>G (MSH6) | ||
| ENST00000700008.1:n.1773A>G (MSH6) | ||
| ENST00000700009.1:n.1772A>G (MSH6) | ||
| ENST00000700010.1:n.1013A>G (MSH6) | ||
| ENST00000700011.1:n.2898A>G (MSH6) | ||
| ENST00000234420.11:c.3604A>G (MSH6) MANE Select | ENSP00000234420.5:p.Met1202Val | |
| ENST00000540021.6:c.3214A>G (MSH6) | ENSP00000446475.1:p.Met1072Val | |
| ENST00000652107.1:c.3307A>G (MSH6) | ENSP00000498629.1:p.Met1103Val | |
| ENST00000673637.1:c.3307A>G (MSH6) | ENSP00000501310.1:p.Met1103Val | |
| ENST00000234420.9:c.3604A>G (MSH6) | ENSP00000234420.4:p.Met1202Val | |
| ENST00000405808.5:c.169+2530T>C (FBXO11) | ENSP00000385127.1:n.169+2530T>C | |
| ENST00000434234.5:c.*124+2329T>C (FBXO11) | ENSP00000402692.1:n.*124+2329T>C | |
| ENST00000445503.5:c.*2951A>G (MSH6) | ENSP00000405294.1:n.*2951A>G | |
| ENST00000538136.1:c.2698A>G (MSH6) | ENSP00000438580.1:p.Met900Val | |
| ENST00000540021.5:c.3214A>G (MSH6) | ENSP00000446475.1:p.Met1072Val | |
| ENST00000614496.4:c.2698A>G (MSH6) | ENSP00000477844.1:p.Met900Val | |
| ENST00000622629.4:c.508A>G (MSH6) | ENSP00000482078.1:p.Met170Val | |
| NM_000179.2:c.3604A>G , LRG_219t1:c.3604A>G (MSH6) | NP_000170.1:p.Met1202Val | |
| NM_001281492.1:c.3214A>G (MSH6) | NP_001268421.1:p.Met1072Val | |
| NM_001281493.1:c.2698A>G (MSH6) | NP_001268422.1:p.Met900Val | |
| NM_001281494.1:c.2698A>G (MSH6) | NP_001268423.1:p.Met900Val | |
| XM_005264271.1:c.3307A>G (MSH6) | XP_005264328.1:p.Met1103Val | |
| XM_011532798.1:c.3421A>G (MSH6) | XP_011531100.1:p.Met1141Val | |
| XM_011532799.1:c.3307A>G (MSH6) | XP_011531101.1:p.Met1103Val | |
| XM_011532800.1:c.3307A>G (MSH6) | XP_011531102.1:p.Met1103Val | |
| XM_024452819.1:c.3604A>G (MSH6) | XP_024308587.1:p.Met1202Val | |
| XM_024452820.1:c.3421A>G (MSH6) | XP_024308588.1:p.Met1141Val | |
| XM_024452821.1:c.3307A>G (MSH6) | XP_024308589.1:p.Met1103Val | |
| XM_024452822.1:c.2698A>G (MSH6) | XP_024308590.1:p.Met900Val | |
| NM_000179.3:c.3604A>G (MSH6) MANE Select | NP_000170.1:p.Met1202Val | |
| NM_001281492.2:c.3214A>G (MSH6) | NP_001268421.1:p.Met1072Val | |
| NM_001281493.2:c.2698A>G (MSH6) | NP_001268422.1:p.Met900Val | |
| NM_001281494.2:c.2698A>G (MSH6) | NP_001268423.1:p.Met900Val |