Linked Data
ClinVar Variation Id:
471524
dbSNP Id:
rs368152307
ExAC:
8:144992332 C / T
gnomAD v2:
8-144992332-C-T
gnomAD v3:
8-143918164-C-T
gnomAD v4:
8-143918164-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143918164C>T , CM000670.2:g.143918164C>T | GRCh38 |
| NC_000008.10:g.144992332C>T , CM000670.1:g.144992332C>T | GRCh37 |
| NC_000008.9:g.145064320C>T | NCBI36 |
| NG_012492.1:g.63582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.11789G>A | ENSP00000437303.2:p.Arg3930His | |
| ENST00000685198.1:c.11708G>A | ENSP00000510528.1:p.Arg3903His | |
| ENST00000687971.1:c.11375G>A | ENSP00000510788.1:p.Arg3792His | |
| ENST00000693060.1:c.11588G>A | ENSP00000510329.1:p.Arg3863His | |
| ENST00000345136.8:c.11657G>A MANE Select | ENSP00000344848.3:p.Arg3886His | |
| ENST00000527303.2:c.8357G>A | ENSP00000433982.2:p.Arg2786His | |
| ENST00000322810.8:c.12068G>A | ENSP00000323856.4:p.Arg4023His | |
| ENST00000345136.7:c.11657G>A | ENSP00000344848.3:p.Arg3886His | |
| ENST00000354589.7:c.11657G>A | ENSP00000346602.3:p.Arg3886His | |
| ENST00000354958.6:c.11591G>A | ENSP00000347044.2:p.Arg3864His | |
| ENST00000356346.7:c.11615G>A MANE Plus Clinical | ENSP00000348702.3:p.Arg3872His | |
| ENST00000357649.6:c.11669G>A | ENSP00000350277.2:p.Arg3890His | |
| ENST00000398774.6:c.11561G>A | ENSP00000381756.2:p.Arg3854His | |
| ENST00000436759.6:c.11738G>A | ENSP00000388180.2:p.Arg3913His | |
| ENST00000527096.5:c.11726G>A | ENSP00000434583.1:p.Arg3909His | |
| NM_000445.4:c.11738G>A | NP_000436.2:p.Arg3913His | |
| NM_201378.3:c.11615G>A | NP_958780.1:p.Arg3872His | |
| NM_201379.2:c.11591G>A | NP_958781.1:p.Arg3864His | |
| NM_201380.3:c.12068G>A | NP_958782.1:p.Arg4023His | |
| NM_201381.2:c.11561G>A | NP_958783.1:p.Arg3854His | |
| NM_201382.3:c.11657G>A | NP_958784.1:p.Arg3886His | |
| NM_201383.2:c.11669G>A | NP_958785.1:p.Arg3890His | |
| NM_201384.2:c.11657G>A | NP_958786.1:p.Arg3886His | |
| XM_005250976.2:c.12083G>A | XP_005251033.1:p.Arg4028His | |
| XM_005250978.2:c.11684G>A | XP_005251035.1:p.Arg3895His | |
| XM_005250979.3:c.11672G>A | XP_005251036.1:p.Arg3891His | |
| XM_005250980.3:c.11672G>A | XP_005251037.1:p.Arg3891His | |
| XM_005250981.2:c.11630G>A | XP_005251038.1:p.Arg3877His | |
| XM_005250982.2:c.11606G>A | XP_005251039.1:p.Arg3869His | |
| XM_005250983.2:c.11588G>A | XP_005251040.1:p.Arg3863His | |
| XM_005250984.3:c.11576G>A | XP_005251041.1:p.Arg3859His | |
| XM_006716588.2:c.11753G>A | XP_006716651.1:p.Arg3918His | |
| XM_006716589.2:c.11603G>A | XP_006716652.1:p.Arg3868His | |
| XM_006716590.2:c.11603G>A | XP_006716653.1:p.Arg3868His | |
| XM_011517130.1:c.11672G>A | XP_011515432.1:p.Arg3891His | |
| XM_011517131.1:c.11588G>A | XP_011515433.1:p.Arg3863His | |
| XM_011517132.1:c.8303G>A | XP_011515434.1:p.Arg2768His | |
| XM_005250976.4:c.12083G>A | XP_005251033.1:p.Arg4028His | |
| XM_005250978.3:c.11684G>A | XP_005251035.1:p.Arg3895His | |
| XM_005250979.4:c.11672G>A | XP_005251036.1:p.Arg3891His | |
| XM_005250980.4:c.11672G>A | XP_005251037.1:p.Arg3891His | |
| XM_005250981.3:c.11630G>A | XP_005251038.1:p.Arg3877His | |
| XM_005250982.4:c.11606G>A | XP_005251039.1:p.Arg3869His | |
| XM_005250984.5:c.11576G>A | XP_005251041.1:p.Arg3859His | |
| XM_006716588.3:c.11753G>A | XP_006716651.1:p.Arg3918His | |
| XM_006716590.3:c.11603G>A | XP_006716653.1:p.Arg3868His | |
| XM_011517130.2:c.11672G>A | XP_011515432.1:p.Arg3891His | |
| XM_011517131.2:c.11588G>A | XP_011515433.1:p.Arg3863His | |
| XM_011517132.2:c.8303G>A | XP_011515434.1:p.Arg2768His | |
| NM_000445.5:c.11738G>A | NP_000436.2:p.Arg3913His | |
| NM_201378.4:c.11615G>A MANE Plus Clinical | NP_958780.1:p.Arg3872His | |
| NM_201379.3:c.11591G>A | NP_958781.1:p.Arg3864His | |
| NM_201380.4:c.12068G>A | NP_958782.1:p.Arg4023His | |
| NM_201381.3:c.11561G>A | NP_958783.1:p.Arg3854His | |
| NM_201382.4:c.11657G>A | NP_958784.1:p.Arg3886His | |
| NM_201383.3:c.11669G>A | NP_958785.1:p.Arg3890His | |
| NM_201384.3:c.11657G>A MANE Select | NP_958786.1:p.Arg3886His |