Linked Data
ClinVar Variation Id:
448080
dbSNP Id:
rs200176579
ExAC:
8:144994966 C / T
gnomAD v2:
8-144994966-C-T
gnomAD v3:
8-143920798-C-T
gnomAD v4:
8-143920798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143920798C>T , CM000670.2:g.143920798C>T | GRCh38 |
| NC_000008.10:g.144994966C>T , CM000670.1:g.144994966C>T | GRCh37 |
| NC_000008.9:g.145066954C>T | NCBI36 |
| NG_012492.1:g.60948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.9155G>A | ENSP00000437303.2:p.Arg3052Gln | |
| ENST00000685198.1:c.9074G>A | ENSP00000510528.1:p.Arg3025Gln | |
| ENST00000687971.1:c.8741G>A | ENSP00000510788.1:p.Arg2914Gln | |
| ENST00000693060.1:c.8954G>A | ENSP00000510329.1:p.Arg2985Gln | |
| ENST00000345136.8:c.9023G>A MANE Select | ENSP00000344848.3:p.Arg3008Gln | |
| ENST00000527303.2:c.5723G>A | ENSP00000433982.2:p.Arg1908Gln | |
| ENST00000322810.8:c.9434G>A | ENSP00000323856.4:p.Arg3145Gln | |
| ENST00000345136.7:c.9023G>A | ENSP00000344848.3:p.Arg3008Gln | |
| ENST00000354589.7:c.9023G>A | ENSP00000346602.3:p.Arg3008Gln | |
| ENST00000354958.6:c.8957G>A | ENSP00000347044.2:p.Arg2986Gln | |
| ENST00000356346.7:c.8981G>A MANE Plus Clinical | ENSP00000348702.3:p.Arg2994Gln | |
| ENST00000357649.6:c.9035G>A | ENSP00000350277.2:p.Arg3012Gln | |
| ENST00000398774.6:c.8927G>A | ENSP00000381756.2:p.Arg2976Gln | |
| ENST00000436759.6:c.9104G>A | ENSP00000388180.2:p.Arg3035Gln | |
| ENST00000527096.5:c.9092G>A | ENSP00000434583.1:p.Arg3031Gln | |
| NM_000445.4:c.9104G>A | NP_000436.2:p.Arg3035Gln | |
| NM_201378.3:c.8981G>A | NP_958780.1:p.Arg2994Gln | |
| NM_201379.2:c.8957G>A | NP_958781.1:p.Arg2986Gln | |
| NM_201380.3:c.9434G>A | NP_958782.1:p.Arg3145Gln | |
| NM_201381.2:c.8927G>A | NP_958783.1:p.Arg2976Gln | |
| NM_201382.3:c.9023G>A | NP_958784.1:p.Arg3008Gln | |
| NM_201383.2:c.9035G>A | NP_958785.1:p.Arg3012Gln | |
| NM_201384.2:c.9023G>A | NP_958786.1:p.Arg3008Gln | |
| XM_005250976.2:c.9449G>A | XP_005251033.1:p.Arg3150Gln | |
| XM_005250978.2:c.9050G>A | XP_005251035.1:p.Arg3017Gln | |
| XM_005250979.3:c.9038G>A | XP_005251036.1:p.Arg3013Gln | |
| XM_005250980.3:c.9038G>A | XP_005251037.1:p.Arg3013Gln | |
| XM_005250981.2:c.8996G>A | XP_005251038.1:p.Arg2999Gln | |
| XM_005250982.2:c.8972G>A | XP_005251039.1:p.Arg2991Gln | |
| XM_005250983.2:c.8954G>A | XP_005251040.1:p.Arg2985Gln | |
| XM_005250984.3:c.8942G>A | XP_005251041.1:p.Arg2981Gln | |
| XM_006716588.2:c.9119G>A | XP_006716651.1:p.Arg3040Gln | |
| XM_006716589.2:c.8969G>A | XP_006716652.1:p.Arg2990Gln | |
| XM_006716590.2:c.8969G>A | XP_006716653.1:p.Arg2990Gln | |
| XM_011517130.1:c.9038G>A | XP_011515432.1:p.Arg3013Gln | |
| XM_011517131.1:c.8954G>A | XP_011515433.1:p.Arg2985Gln | |
| XM_011517132.1:c.5669G>A | XP_011515434.1:p.Arg1890Gln | |
| XM_005250976.4:c.9449G>A | XP_005251033.1:p.Arg3150Gln | |
| XM_005250978.3:c.9050G>A | XP_005251035.1:p.Arg3017Gln | |
| XM_005250979.4:c.9038G>A | XP_005251036.1:p.Arg3013Gln | |
| XM_005250980.4:c.9038G>A | XP_005251037.1:p.Arg3013Gln | |
| XM_005250981.3:c.8996G>A | XP_005251038.1:p.Arg2999Gln | |
| XM_005250982.4:c.8972G>A | XP_005251039.1:p.Arg2991Gln | |
| XM_005250984.5:c.8942G>A | XP_005251041.1:p.Arg2981Gln | |
| XM_006716588.3:c.9119G>A | XP_006716651.1:p.Arg3040Gln | |
| XM_006716590.3:c.8969G>A | XP_006716653.1:p.Arg2990Gln | |
| XM_011517130.2:c.9038G>A | XP_011515432.1:p.Arg3013Gln | |
| XM_011517131.2:c.8954G>A | XP_011515433.1:p.Arg2985Gln | |
| XM_011517132.2:c.5669G>A | XP_011515434.1:p.Arg1890Gln | |
| NM_000445.5:c.9104G>A | NP_000436.2:p.Arg3035Gln | |
| NM_201378.4:c.8981G>A MANE Plus Clinical | NP_958780.1:p.Arg2994Gln | |
| NM_201379.3:c.8957G>A | NP_958781.1:p.Arg2986Gln | |
| NM_201380.4:c.9434G>A | NP_958782.1:p.Arg3145Gln | |
| NM_201381.3:c.8927G>A | NP_958783.1:p.Arg2976Gln | |
| NM_201382.4:c.9023G>A | NP_958784.1:p.Arg3008Gln | |
| NM_201383.3:c.9035G>A | NP_958785.1:p.Arg3012Gln | |
| NM_201384.3:c.9023G>A MANE Select | NP_958786.1:p.Arg3008Gln |