Linked Data
ClinVar Variation Id:
849724
ClinVar RCV Id:
RCV001053749
dbSNP Id:
rs1221659275
gnomAD v2:
2-48033388-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806249T>C , CM000664.2:g.47806249T>C | GRCh38 |
| NC_000002.11:g.48033388T>C , CM000664.1:g.48033388T>C | GRCh37 |
| NC_000002.10:g.47886892T>C | NCBI36 |
| NG_007111.1:g.28103T>C , LRG_219:g.28103T>C | |
| NG_008397.1:g.104427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3395T>C (MSH6) | ENSP00000406248.2:p.Val1132Ala | |
| ENST00000420813.6:c.3395T>C (MSH6) | ENSP00000390382.2:p.Val1132Ala | |
| ENST00000455383.6:c.3395T>C (MSH6) | ENSP00000397484.2:p.Val1132Ala | |
| ENST00000700004.2:c.3308T>C (MSH6) | ENSP00000514752.2:p.Val1103Ala | |
| ENST00000699999.1:n.4366T>C (MSH6) | ||
| ENST00000700000.1:c.2126T>C (MSH6) | ENSP00000514749.1:p.Val709Ala | |
| ENST00000700002.1:c.3698T>C (MSH6) | ENSP00000514750.1:p.Val1233Ala | |
| ENST00000700003.1:c.1147T>C (MSH6) | ENSP00000514751.1:n.1147T>C | |
| ENST00000700004.1:c.2465T>C (MSH6) | ENSP00000514752.1:p.Val822Ala | |
| ENST00000700005.1:n.2543T>C (MSH6) | ||
| ENST00000700006.1:n.4850T>C (MSH6) | ||
| ENST00000700007.1:n.2287T>C (MSH6) | ||
| ENST00000700008.1:n.1861T>C (MSH6) | ||
| ENST00000700009.1:n.2356T>C (MSH6) | ||
| ENST00000700010.1:n.1101T>C (MSH6) | ||
| ENST00000700011.1:n.2986T>C (MSH6) | ||
| ENST00000682451.1:n.4499A>G (FBXO11) | ||
| ENST00000684712.1:n.4761A>G (FBXO11) | ||
| ENST00000234420.11:c.3692T>C (MSH6) MANE Select | ENSP00000234420.5:p.Val1231Ala | |
| ENST00000540021.6:c.3302T>C (MSH6) | ENSP00000446475.1:p.Val1101Ala | |
| ENST00000652107.1:c.3395T>C (MSH6) | ENSP00000498629.1:p.Val1132Ala | |
| ENST00000673637.1:c.3395T>C (MSH6) | ENSP00000501310.1:p.Val1132Ala | |
| ENST00000234420.9:c.3692T>C (MSH6) | ENSP00000234420.4:p.Val1231Ala | |
| ENST00000405808.5:c.169+1946A>G (FBXO11) | ENSP00000385127.1:n.169+1946A>G | |
| ENST00000434234.5:c.*124+1745A>G (FBXO11) | ENSP00000402692.1:n.*124+1745A>G | |
| ENST00000445503.5:c.*3039T>C (MSH6) | ENSP00000405294.1:n.*3039T>C | |
| ENST00000538136.1:c.2786T>C (MSH6) | ENSP00000438580.1:p.Val929Ala | |
| ENST00000540021.5:c.3302T>C (MSH6) | ENSP00000446475.1:p.Val1101Ala | |
| ENST00000614496.4:c.2786T>C (MSH6) | ENSP00000477844.1:p.Val929Ala | |
| ENST00000622629.4:c.596T>C (MSH6) | ENSP00000482078.1:p.Val199Ala | |
| NM_000179.2:c.3692T>C , LRG_219t1:c.3692T>C (MSH6) | NP_000170.1:p.Val1231Ala | |
| NM_001281492.1:c.3302T>C (MSH6) | NP_001268421.1:p.Val1101Ala | |
| NM_001281493.1:c.2786T>C (MSH6) | NP_001268422.1:p.Val929Ala | |
| NM_001281494.1:c.2786T>C (MSH6) | NP_001268423.1:p.Val929Ala | |
| XM_005264271.1:c.3395T>C (MSH6) | XP_005264328.1:p.Val1132Ala | |
| XM_011532798.1:c.3509T>C (MSH6) | XP_011531100.1:p.Val1170Ala | |
| XM_011532799.1:c.3395T>C (MSH6) | XP_011531101.1:p.Val1132Ala | |
| XM_011532800.1:c.3395T>C (MSH6) | XP_011531102.1:p.Val1132Ala | |
| XM_024452819.1:c.3692T>C (MSH6) | XP_024308587.1:p.Val1231Ala | |
| XM_024452820.1:c.3509T>C (MSH6) | XP_024308588.1:p.Val1170Ala | |
| XM_024452821.1:c.3395T>C (MSH6) | XP_024308589.1:p.Val1132Ala | |
| XM_024452822.1:c.2786T>C (MSH6) | XP_024308590.1:p.Val929Ala | |
| NM_000179.3:c.3692T>C (MSH6) MANE Select | NP_000170.1:p.Val1231Ala | |
| NM_001281492.2:c.3302T>C (MSH6) | NP_001268421.1:p.Val1101Ala | |
| NM_001281493.2:c.2786T>C (MSH6) | NP_001268422.1:p.Val929Ala | |
| NM_001281494.2:c.2786T>C (MSH6) | NP_001268423.1:p.Val929Ala |