Linked Data
ClinVar Variation Id:
2876200
ClinVar RCV Id:
RCV003635689
dbSNP Id:
rs1031547596
gnomAD v2:
1-235970024-G-T
gnomAD v4:
1-235806724-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235806724G>T , CM000663.2:g.235806724G>T | GRCh38 |
| NC_000001.10:g.235970024G>T , CM000663.1:g.235970024G>T | GRCh37 |
| NC_000001.9:g.234036647G>T | NCBI36 |
| NG_007397.1:g.81917C>A , LRG_143:g.81917C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697178.1:c.2412C>A | ENSP00000513163.1:p.Ile804= | |
| ENST00000697242.1:c.1815C>A | ENSP00000513207.1:p.Ile605= | |
| ENST00000389793.7:c.2412C>A MANE Select | ENSP00000374443.2:p.Ile804= | |
| ENST00000389793.6:c.2412C>A | ENSP00000374443.2:p.Ile804= | |
| ENST00000389794.7:c.2412C>A | ENSP00000374444.4:p.Ile804= | |
| ENST00000465349.5:n.2963C>A | ||
| ENST00000489585.5:n.2963C>A | ||
| NM_000081.3:c.2412C>A , LRG_143t1:c.2412C>A | NP_000072.2:p.Ile804= | |
| NM_001301365.1:c.2412C>A , LRG_143t2:c.2412C>A | NP_001288294.1:p.Ile804= | |
| XM_011544031.1:c.2412C>A | XP_011542333.1:p.Ile804= | |
| XM_011544032.1:c.2412C>A | XP_011542334.1:p.Ile804= | |
| XM_011544033.1:c.2412C>A | XP_011542335.1:p.Ile804= | |
| XM_011544034.1:c.2412C>A | XP_011542336.1:p.Ile804= | |
| XM_011544035.1:c.2412C>A | XP_011542337.1:p.Ile804= | |
| XM_011544036.1:c.75C>A | XP_011542338.1:p.Ile25= | |
| XM_011544037.1:c.2412C>A | XP_011542339.1:p.Ile804= | |
| XM_011544038.1:c.2412C>A | XP_011542340.1:p.Ile804= | |
| XM_011544039.1:c.2412C>A | XP_011542341.1:p.Ile804= | |
| XM_011544040.1:c.2412C>A | XP_011542342.1:p.Ile804= | |
| XM_011544033.2:c.2412C>A | XP_011542335.1:p.Ile804= | |
| XM_011544035.2:c.2412C>A | XP_011542337.1:p.Ile804= | |
| XM_011544036.2:c.75C>A | XP_011542338.1:p.Ile25= | |
| XM_011544037.2:c.2412C>A | XP_011542339.1:p.Ile804= | |
| XM_011544039.2:c.2412C>A | XP_011542341.1:p.Ile804= | |
| XM_017000150.1:c.2412C>A | XP_016855639.1:p.Ile804= | |
| XM_017000151.1:c.2412C>A | XP_016855640.1:p.Ile804= | |
| XR_001736946.2:n.2594C>A | ||
| XR_001736947.1:n.2594C>A | ||
| XR_001736948.1:n.2594C>A | ||
| XR_002959252.1:n.2594C>A | ||
| NM_000081.4:c.2412C>A MANE Select | NP_000072.2:p.Ile804= |