Linked Data
ClinVar Variation Id:
182625
dbSNP Id:
rs730881792
gnomAD v2:
2-48026879-T-C
gnomAD v3:
2-47799740-T-C
gnomAD v4:
2-47799740-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799740T>C , CM000664.2:g.47799740T>C | GRCh38 |
| NC_000002.11:g.48026879T>C , CM000664.1:g.48026879T>C | GRCh37 |
| NC_000002.10:g.47880383T>C | NCBI36 |
| NG_007111.1:g.21594T>C , LRG_219:g.21594T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.1460T>C (MSH6) | ENSP00000406248.2:p.Val487Ala | |
| ENST00000420813.6:c.1460T>C (MSH6) | ENSP00000390382.2:p.Val487Ala | |
| ENST00000455383.6:c.1460T>C (MSH6) | ENSP00000397484.2:p.Val487Ala | |
| ENST00000700004.2:c.1757T>C (MSH6) | ENSP00000514752.2:p.Val586Ala | |
| ENST00000699999.1:n.1841T>C (MSH6) | ||
| ENST00000700000.1:c.1606+151T>C (MSH6) | ENSP00000514749.1:n.1606+151T>C | |
| ENST00000700002.1:c.1763T>C (MSH6) | ENSP00000514750.1:p.Val588Ala | |
| ENST00000700003.1:c.627+3677T>C (MSH6) | ENSP00000514751.1:n.627+3677T>C | |
| ENST00000700004.1:c.914T>C (MSH6) | ENSP00000514752.1:p.Val305Ala | |
| ENST00000234420.11:c.1757T>C (MSH6) MANE Select | ENSP00000234420.5:p.Val586Ala | |
| ENST00000540021.6:c.1367T>C (MSH6) | ENSP00000446475.1:p.Val456Ala | |
| ENST00000652107.1:c.1460T>C (MSH6) | ENSP00000498629.1:p.Val487Ala | |
| ENST00000673637.1:c.1460T>C (MSH6) | ENSP00000501310.1:p.Val487Ala | |
| ENST00000234420.9:c.1757T>C (MSH6) | ENSP00000234420.4:p.Val586Ala | |
| ENST00000405808.5:c.169+8455A>G (FBXO11) | ENSP00000385127.1:n.169+8455A>G | |
| ENST00000434234.5:c.*124+8254A>G (FBXO11) | ENSP00000402692.1:n.*124+8254A>G | |
| ENST00000445503.5:c.*1104T>C (MSH6) | ENSP00000405294.1:n.*1104T>C | |
| ENST00000538136.1:c.851T>C (MSH6) | ENSP00000438580.1:p.Val284Ala | |
| ENST00000540021.5:c.1367T>C (MSH6) | ENSP00000446475.1:p.Val456Ala | |
| ENST00000614496.4:c.851T>C (MSH6) | ENSP00000477844.1:p.Val284Ala | |
| ENST00000616033.4:c.1754T>C (MSH6) | ENSP00000480261.1:p.Val585Ala | |
| ENST00000622629.4:c.-1340T>C (MSH6) | ENSP00000482078.1:n.-1340T>C | |
| NM_000179.2:c.1757T>C , LRG_219t1:c.1757T>C (MSH6) | NP_000170.1:p.Val586Ala | |
| NM_001281492.1:c.1367T>C (MSH6) | NP_001268421.1:p.Val456Ala | |
| NM_001281493.1:c.851T>C (MSH6) | NP_001268422.1:p.Val284Ala | |
| NM_001281494.1:c.851T>C (MSH6) | NP_001268423.1:p.Val284Ala | |
| XM_005264271.1:c.1460T>C (MSH6) | XP_005264328.1:p.Val487Ala | |
| XM_011532798.1:c.1574T>C (MSH6) | XP_011531100.1:p.Val525Ala | |
| XM_011532799.1:c.1460T>C (MSH6) | XP_011531101.1:p.Val487Ala | |
| XM_011532800.1:c.1460T>C (MSH6) | XP_011531102.1:p.Val487Ala | |
| XM_024452819.1:c.1757T>C (MSH6) | XP_024308587.1:p.Val586Ala | |
| XM_024452820.1:c.1574T>C (MSH6) | XP_024308588.1:p.Val525Ala | |
| XM_024452821.1:c.1460T>C (MSH6) | XP_024308589.1:p.Val487Ala | |
| XM_024452822.1:c.851T>C (MSH6) | XP_024308590.1:p.Val284Ala | |
| NM_000179.3:c.1757T>C (MSH6) MANE Select | NP_000170.1:p.Val586Ala | |
| NM_001281492.2:c.1367T>C (MSH6) | NP_001268421.1:p.Val456Ala | |
| NM_001281493.2:c.851T>C (MSH6) | NP_001268422.1:p.Val284Ala | |
| NM_001281494.2:c.851T>C (MSH6) | NP_001268423.1:p.Val284Ala |