Linked Data
ClinVar Variation Id:
127582
dbSNP Id:
rs587779932
gnomAD v2:
2-48030618-G-C
gnomAD v3:
2-47803479-G-C
gnomAD v4:
2-47803479-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47803479G>C , CM000664.2:g.47803479G>C | GRCh38 |
| NC_000002.11:g.48030618G>C , CM000664.1:g.48030618G>C | GRCh37 |
| NC_000002.10:g.47884122G>C | NCBI36 |
| NG_007111.1:g.25333G>C , LRG_219:g.25333G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2935G>C (MSH6) | ENSP00000406248.2:p.Val979Leu | |
| ENST00000420813.6:c.2935G>C (MSH6) | ENSP00000390382.2:p.Val979Leu | |
| ENST00000455383.6:c.2935G>C (MSH6) | ENSP00000397484.2:p.Val979Leu | |
| ENST00000700004.2:c.3173-2139G>C (MSH6) | ENSP00000514752.2:n.3173-2139G>C | |
| ENST00000699999.1:n.3316G>C (MSH6) | ||
| ENST00000700000.1:c.1666G>C (MSH6) | ENSP00000514749.1:p.Val556Leu | |
| ENST00000700002.1:c.3238G>C (MSH6) | ENSP00000514750.1:p.Val1080Leu | |
| ENST00000700003.1:c.687G>C (MSH6) | ENSP00000514751.1:p.Gln229His | |
| ENST00000700004.1:c.2330-2139G>C (MSH6) | ENSP00000514752.1:n.2330-2139G>C | |
| ENST00000700005.1:n.2083G>C (MSH6) | ||
| ENST00000700006.1:n.2080G>C (MSH6) | ||
| ENST00000700007.1:n.1237G>C (MSH6) | ||
| ENST00000700008.1:n.811G>C (MSH6) | ||
| ENST00000700009.1:n.810G>C (MSH6) | ||
| ENST00000700010.1:n.641G>C (MSH6) | ||
| ENST00000700011.1:n.712G>C (MSH6) | ||
| ENST00000234420.11:c.3232G>C (MSH6) MANE Select | ENSP00000234420.5:p.Val1078Leu | |
| ENST00000540021.6:c.2842G>C (MSH6) | ENSP00000446475.1:p.Val948Leu | |
| ENST00000652107.1:c.2935G>C (MSH6) | ENSP00000498629.1:p.Val979Leu | |
| ENST00000673637.1:c.2935G>C (MSH6) | ENSP00000501310.1:p.Val979Leu | |
| ENST00000234420.9:c.3232G>C (MSH6) | ENSP00000234420.4:p.Val1078Leu | |
| ENST00000405808.5:c.169+4716C>G (FBXO11) | ENSP00000385127.1:n.169+4716C>G | |
| ENST00000434234.5:c.*124+4515C>G (FBXO11) | ENSP00000402692.1:n.*124+4515C>G | |
| ENST00000445503.5:c.*2579G>C (MSH6) | ENSP00000405294.1:n.*2579G>C | |
| ENST00000538136.1:c.2326G>C (MSH6) | ENSP00000438580.1:p.Val776Leu | |
| ENST00000540021.5:c.2842G>C (MSH6) | ENSP00000446475.1:p.Val948Leu | |
| ENST00000614496.4:c.2326G>C (MSH6) | ENSP00000477844.1:p.Val776Leu | |
| ENST00000622629.4:c.136G>C (MSH6) | ENSP00000482078.1:p.Val46Leu | |
| NM_000179.2:c.3232G>C , LRG_219t1:c.3232G>C (MSH6) | NP_000170.1:p.Val1078Leu | |
| NM_001281492.1:c.2842G>C (MSH6) | NP_001268421.1:p.Val948Leu | |
| NM_001281493.1:c.2326G>C (MSH6) | NP_001268422.1:p.Val776Leu | |
| NM_001281494.1:c.2326G>C (MSH6) | NP_001268423.1:p.Val776Leu | |
| XM_005264271.1:c.2935G>C (MSH6) | XP_005264328.1:p.Val979Leu | |
| XM_011532798.1:c.3049G>C (MSH6) | XP_011531100.1:p.Val1017Leu | |
| XM_011532799.1:c.2935G>C (MSH6) | XP_011531101.1:p.Val979Leu | |
| XM_011532800.1:c.2935G>C (MSH6) | XP_011531102.1:p.Val979Leu | |
| XM_024452819.1:c.3232G>C (MSH6) | XP_024308587.1:p.Val1078Leu | |
| XM_024452820.1:c.3049G>C (MSH6) | XP_024308588.1:p.Val1017Leu | |
| XM_024452821.1:c.2935G>C (MSH6) | XP_024308589.1:p.Val979Leu | |
| XM_024452822.1:c.2326G>C (MSH6) | XP_024308590.1:p.Val776Leu | |
| NM_000179.3:c.3232G>C (MSH6) MANE Select | NP_000170.1:p.Val1078Leu | |
| NM_001281492.2:c.2842G>C (MSH6) | NP_001268421.1:p.Val948Leu | |
| NM_001281493.2:c.2326G>C (MSH6) | NP_001268422.1:p.Val776Leu | |
| NM_001281494.2:c.2326G>C (MSH6) | NP_001268423.1:p.Val776Leu |