Linked Data
ClinVar Variation Id:
1458072
ClinVar RCV Id:
RCV001949411
dbSNP Id:
rs1670073608
gnomAD v4:
2-47806376-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806376T>G , CM000664.2:g.47806376T>G | GRCh38 |
| NC_000002.11:g.48033515T>G , CM000664.1:g.48033515T>G | GRCh37 |
| NC_000002.10:g.47887019T>G | NCBI36 |
| NG_007111.1:g.28230T>G , LRG_219:g.28230T>G | |
| NG_008397.1:g.104300A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3504+18T>G (MSH6) | ENSP00000406248.2:n.3504+18T>G | |
| ENST00000420813.6:c.3504+18T>G (MSH6) | ENSP00000390382.2:n.3504+18T>G | |
| ENST00000455383.6:c.3504+18T>G (MSH6) | ENSP00000397484.2:n.3504+18T>G | |
| ENST00000700004.2:c.3417+18T>G (MSH6) | ENSP00000514752.2:n.3417+18T>G | |
| ENST00000699999.1:n.4475+18T>G (MSH6) | ||
| ENST00000700000.1:c.2235+18T>G (MSH6) | ENSP00000514749.1:n.2235+18T>G | |
| ENST00000700002.1:c.3807+18T>G (MSH6) | ENSP00000514750.1:n.3807+18T>G | |
| ENST00000700003.1:c.1256+18T>G (MSH6) | ENSP00000514751.1:n.1256+18T>G | |
| ENST00000700004.1:c.2574+18T>G (MSH6) | ENSP00000514752.1:n.2574+18T>G | |
| ENST00000700005.1:n.2652+18T>G (MSH6) | ||
| ENST00000700006.1:n.4959+18T>G (MSH6) | ||
| ENST00000700007.1:n.2396+18T>G (MSH6) | ||
| ENST00000700008.1:n.1988T>G (MSH6) | ||
| ENST00000700009.1:n.2465+18T>G (MSH6) | ||
| ENST00000700010.1:n.1210+18T>G (MSH6) | ||
| ENST00000700011.1:n.3095+18T>G (MSH6) | ||
| ENST00000682451.1:n.4372A>C (FBXO11) | ||
| ENST00000684712.1:n.4634A>C (FBXO11) | ||
| ENST00000234420.11:c.3801+18T>G (MSH6) MANE Select | ENSP00000234420.5:n.3801+18T>G | |
| ENST00000540021.6:c.3411+18T>G (MSH6) | ENSP00000446475.1:n.3411+18T>G | |
| ENST00000652107.1:c.3504+18T>G (MSH6) | ENSP00000498629.1:n.3504+18T>G | |
| ENST00000673637.1:c.3504+18T>G (MSH6) | ENSP00000501310.1:n.3504+18T>G | |
| ENST00000234420.9:c.3801+18T>G (MSH6) | ENSP00000234420.4:n.3801+18T>G | |
| ENST00000405808.5:c.169+1819A>C (FBXO11) | ENSP00000385127.1:n.169+1819A>C | |
| ENST00000434234.5:c.*124+1618A>C (FBXO11) | ENSP00000402692.1:n.*124+1618A>C | |
| ENST00000445503.5:c.*3148+18T>G (MSH6) | ENSP00000405294.1:n.*3148+18T>G | |
| ENST00000538136.1:c.2895+18T>G (MSH6) | ENSP00000438580.1:n.2895+18T>G | |
| ENST00000540021.5:c.3411+18T>G (MSH6) | ENSP00000446475.1:n.3411+18T>G | |
| ENST00000614496.4:c.2895+18T>G (MSH6) | ENSP00000477844.1:n.2895+18T>G | |
| ENST00000622629.4:c.702+18T>G (MSH6) | ENSP00000482078.1:n.702+18T>G | |
| NM_000179.2:c.3801+18T>G , LRG_219t1:c.3801+18T>G (MSH6) | NP_000170.1:n.3801+18T>G | |
| NM_001281492.1:c.3411+18T>G (MSH6) | NP_001268421.1:n.3411+18T>G | |
| NM_001281493.1:c.2895+18T>G (MSH6) | NP_001268422.1:n.2895+18T>G | |
| NM_001281494.1:c.2895+18T>G (MSH6) | NP_001268423.1:n.2895+18T>G | |
| XM_005264271.1:c.3504+18T>G (MSH6) | XP_005264328.1:n.3504+18T>G | |
| XM_011532798.1:c.3618+18T>G (MSH6) | XP_011531100.1:n.3618+18T>G | |
| XM_011532799.1:c.3504+18T>G (MSH6) | XP_011531101.1:n.3504+18T>G | |
| XM_011532800.1:c.3504+18T>G (MSH6) | XP_011531102.1:n.3504+18T>G | |
| XM_024452819.1:c.3819T>G (MSH6) | XP_024308587.1:p.Phe1273Leu | |
| XM_024452820.1:c.3636T>G (MSH6) | XP_024308588.1:p.Phe1212Leu | |
| XM_024452821.1:c.3522T>G (MSH6) | XP_024308589.1:p.Phe1174Leu | |
| XM_024452822.1:c.2913T>G (MSH6) | XP_024308590.1:p.Phe971Leu | |
| NM_000179.3:c.3801+18T>G (MSH6) MANE Select | NP_000170.1:n.3801+18T>G | |
| NM_001281492.2:c.3411+18T>G (MSH6) | NP_001268421.1:n.3411+18T>G | |
| NM_001281493.2:c.2895+18T>G (MSH6) | NP_001268422.1:n.2895+18T>G | |
| NM_001281494.2:c.2895+18T>G (MSH6) | NP_001268423.1:n.2895+18T>G |