Linked Data
ClinVar Variation Id:
196835
dbSNP Id:
rs374595008
ExAC:
8:144992265 C / A
gnomAD v2:
8-144992265-C-A
gnomAD v3:
8-143918097-C-A
gnomAD v4:
8-143918097-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143918097C>A , CM000670.2:g.143918097C>A | GRCh38 |
| NC_000008.10:g.144992265C>A , CM000670.1:g.144992265C>A | GRCh37 |
| NC_000008.9:g.145064253C>A | NCBI36 |
| NG_012492.1:g.63649G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.11856G>T | ENSP00000437303.2:p.Ala3952= | |
| ENST00000685198.1:c.11775G>T | ENSP00000510528.1:p.Ala3925= | |
| ENST00000687971.1:c.11442G>T | ENSP00000510788.1:p.Ala3814= | |
| ENST00000693060.1:c.11655G>T | ENSP00000510329.1:p.Ala3885= | |
| ENST00000345136.8:c.11724G>T MANE Select | ENSP00000344848.3:p.Ala3908= | |
| ENST00000527303.2:c.8424G>T | ENSP00000433982.2:p.Ala2808= | |
| ENST00000322810.8:c.12135G>T | ENSP00000323856.4:p.Ala4045= | |
| ENST00000345136.7:c.11724G>T | ENSP00000344848.3:p.Ala3908= | |
| ENST00000354589.7:c.11724G>T | ENSP00000346602.3:p.Ala3908= | |
| ENST00000354958.6:c.11658G>T | ENSP00000347044.2:p.Ala3886= | |
| ENST00000356346.7:c.11682G>T MANE Plus Clinical | ENSP00000348702.3:p.Ala3894= | |
| ENST00000357649.6:c.11736G>T | ENSP00000350277.2:p.Ala3912= | |
| ENST00000398774.6:c.11628G>T | ENSP00000381756.2:p.Ala3876= | |
| ENST00000436759.6:c.11805G>T | ENSP00000388180.2:p.Ala3935= | |
| ENST00000527096.5:c.11793G>T | ENSP00000434583.1:p.Ala3931= | |
| NM_000445.4:c.11805G>T | NP_000436.2:p.Ala3935= | |
| NM_201378.3:c.11682G>T | NP_958780.1:p.Ala3894= | |
| NM_201379.2:c.11658G>T | NP_958781.1:p.Ala3886= | |
| NM_201380.3:c.12135G>T | NP_958782.1:p.Ala4045= | |
| NM_201381.2:c.11628G>T | NP_958783.1:p.Ala3876= | |
| NM_201382.3:c.11724G>T | NP_958784.1:p.Ala3908= | |
| NM_201383.2:c.11736G>T | NP_958785.1:p.Ala3912= | |
| NM_201384.2:c.11724G>T | NP_958786.1:p.Ala3908= | |
| XM_005250976.2:c.12150G>T | XP_005251033.1:p.Ala4050= | |
| XM_005250978.2:c.11751G>T | XP_005251035.1:p.Ala3917= | |
| XM_005250979.3:c.11739G>T | XP_005251036.1:p.Ala3913= | |
| XM_005250980.3:c.11739G>T | XP_005251037.1:p.Ala3913= | |
| XM_005250981.2:c.11697G>T | XP_005251038.1:p.Ala3899= | |
| XM_005250982.2:c.11673G>T | XP_005251039.1:p.Ala3891= | |
| XM_005250983.2:c.11655G>T | XP_005251040.1:p.Ala3885= | |
| XM_005250984.3:c.11643G>T | XP_005251041.1:p.Ala3881= | |
| XM_006716588.2:c.11820G>T | XP_006716651.1:p.Ala3940= | |
| XM_006716589.2:c.11670G>T | XP_006716652.1:p.Ala3890= | |
| XM_006716590.2:c.11670G>T | XP_006716653.1:p.Ala3890= | |
| XM_011517130.1:c.11739G>T | XP_011515432.1:p.Ala3913= | |
| XM_011517131.1:c.11655G>T | XP_011515433.1:p.Ala3885= | |
| XM_011517132.1:c.8370G>T | XP_011515434.1:p.Ala2790= | |
| XM_005250976.4:c.12150G>T | XP_005251033.1:p.Ala4050= | |
| XM_005250978.3:c.11751G>T | XP_005251035.1:p.Ala3917= | |
| XM_005250979.4:c.11739G>T | XP_005251036.1:p.Ala3913= | |
| XM_005250980.4:c.11739G>T | XP_005251037.1:p.Ala3913= | |
| XM_005250981.3:c.11697G>T | XP_005251038.1:p.Ala3899= | |
| XM_005250982.4:c.11673G>T | XP_005251039.1:p.Ala3891= | |
| XM_005250984.5:c.11643G>T | XP_005251041.1:p.Ala3881= | |
| XM_006716588.3:c.11820G>T | XP_006716651.1:p.Ala3940= | |
| XM_006716590.3:c.11670G>T | XP_006716653.1:p.Ala3890= | |
| XM_011517130.2:c.11739G>T | XP_011515432.1:p.Ala3913= | |
| XM_011517131.2:c.11655G>T | XP_011515433.1:p.Ala3885= | |
| XM_011517132.2:c.8370G>T | XP_011515434.1:p.Ala2790= | |
| NM_000445.5:c.11805G>T | NP_000436.2:p.Ala3935= | |
| NM_201378.4:c.11682G>T MANE Plus Clinical | NP_958780.1:p.Ala3894= | |
| NM_201379.3:c.11658G>T | NP_958781.1:p.Ala3886= | |
| NM_201380.4:c.12135G>T | NP_958782.1:p.Ala4045= | |
| NM_201381.3:c.11628G>T | NP_958783.1:p.Ala3876= | |
| NM_201382.4:c.11724G>T | NP_958784.1:p.Ala3908= | |
| NM_201383.3:c.11736G>T | NP_958785.1:p.Ala3912= | |
| NM_201384.3:c.11724G>T MANE Select | NP_958786.1:p.Ala3908= |