Linked Data
ClinVar Variation Id:
296390
dbSNP Id:
rs374351038
ExAC:
1:235929421 C / G
gnomAD v2:
1-235929421-C-G
gnomAD v3:
1-235766121-C-G
gnomAD v4:
1-235766121-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235766121C>G , CM000663.2:g.235766121C>G | GRCh38 |
| NC_000001.10:g.235929421C>G , CM000663.1:g.235929421C>G | GRCh37 |
| NC_000001.9:g.233996044C>G | NCBI36 |
| NG_007397.1:g.122520G>C , LRG_143:g.122520G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.754G>C | ENSP00000513165.1:p.Val252Leu | |
| ENST00000697178.1:c.*1503G>C | ENSP00000513163.1:n.*1503G>C | |
| ENST00000697180.1:c.584G>C | ||
| ENST00000697241.1:c.511G>C | ENSP00000513206.1:p.Val171Leu | |
| ENST00000389793.7:c.6079G>C MANE Select | ENSP00000374443.2:p.Val2027Leu | |
| ENST00000389793.6:c.6079G>C | ENSP00000374443.2:p.Val2027Leu | |
| ENST00000389794.7:c.*1503G>C | ENSP00000374444.4:n.*1503G>C | |
| ENST00000489585.5:n.6512+118G>C | ||
| NM_000081.3:c.6079G>C , LRG_143t1:c.6079G>C | NP_000072.2:p.Val2027Leu | |
| NM_001301365.1:c.6079G>C , LRG_143t2:c.6079G>C | NP_001288294.1:p.Val2027Leu | |
| XM_011544031.1:c.6079G>C | XP_011542333.1:p.Val2027Leu | |
| XM_011544032.1:c.6079G>C | XP_011542334.1:p.Val2027Leu | |
| XM_011544033.1:c.6079G>C | XP_011542335.1:p.Val2027Leu | |
| XM_011544034.1:c.5941G>C | XP_011542336.1:p.Val1981Leu | |
| XM_011544035.1:c.6079G>C | XP_011542337.1:p.Val2027Leu | |
| XM_011544036.1:c.3742G>C | XP_011542338.1:p.Val1248Leu | |
| XM_011544037.1:c.6079G>C | XP_011542339.1:p.Val2027Leu | |
| XM_011544038.1:c.6079G>C | XP_011542340.1:p.Val2027Leu | |
| XM_011544039.1:c.6079G>C | XP_011542341.1:p.Val2027Leu | |
| XM_011544040.1:c.5988G>C | XP_011542342.1:p.Thr1996= | |
| XM_011544033.2:c.6079G>C | XP_011542335.1:p.Val2027Leu | |
| XM_011544035.2:c.6079G>C | XP_011542337.1:p.Val2027Leu | |
| XM_011544036.2:c.3742G>C | XP_011542338.1:p.Val1248Leu | |
| XM_011544037.2:c.6079G>C | XP_011542339.1:p.Val2027Leu | |
| XM_011544039.2:c.6079G>C | XP_011542341.1:p.Val2027Leu | |
| XM_017000150.1:c.6079G>C | XP_016855639.1:p.Val2027Leu | |
| XM_017000151.1:c.5850G>C | XP_016855640.1:p.Thr1950= | |
| XR_001736946.2:n.6261G>C | ||
| XR_001736947.1:n.6261G>C | ||
| XR_001736948.1:n.6261G>C | ||
| XR_002959252.1:n.6170G>C | ||
| NM_000081.4:c.6079G>C MANE Select | NP_000072.2:p.Val2027Leu |