Linked Data
ClinVar Variation Id:
498067
dbSNP Id:
rs555044240
ExAC:
8:144992952 C / T
gnomAD v2:
8-144992952-C-T
gnomAD v3:
8-143918784-C-T
gnomAD v4:
8-143918784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143918784C>T , CM000670.2:g.143918784C>T | GRCh38 |
| NC_000008.10:g.144992952C>T , CM000670.1:g.144992952C>T | GRCh37 |
| NC_000008.9:g.145064940C>T | NCBI36 |
| NG_012492.1:g.62962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.11169G>A | ENSP00000437303.2:p.Ala3723= | |
| ENST00000685198.1:c.11088G>A | ENSP00000510528.1:p.Ala3696= | |
| ENST00000687971.1:c.10755G>A | ENSP00000510788.1:p.Ala3585= | |
| ENST00000693060.1:c.10968G>A | ENSP00000510329.1:p.Ala3656= | |
| ENST00000345136.8:c.11037G>A MANE Select | ENSP00000344848.3:p.Ala3679= | |
| ENST00000527303.2:c.7737G>A | ENSP00000433982.2:p.Ala2579= | |
| ENST00000322810.8:c.11448G>A | ENSP00000323856.4:p.Ala3816= | |
| ENST00000345136.7:c.11037G>A | ENSP00000344848.3:p.Ala3679= | |
| ENST00000354589.7:c.11037G>A | ENSP00000346602.3:p.Ala3679= | |
| ENST00000354958.6:c.10971G>A | ENSP00000347044.2:p.Ala3657= | |
| ENST00000356346.7:c.10995G>A MANE Plus Clinical | ENSP00000348702.3:p.Ala3665= | |
| ENST00000357649.6:c.11049G>A | ENSP00000350277.2:p.Ala3683= | |
| ENST00000398774.6:c.10941G>A | ENSP00000381756.2:p.Ala3647= | |
| ENST00000436759.6:c.11118G>A | ENSP00000388180.2:p.Ala3706= | |
| ENST00000527096.5:c.11106G>A | ENSP00000434583.1:p.Ala3702= | |
| NM_000445.4:c.11118G>A | NP_000436.2:p.Ala3706= | |
| NM_201378.3:c.10995G>A | NP_958780.1:p.Ala3665= | |
| NM_201379.2:c.10971G>A | NP_958781.1:p.Ala3657= | |
| NM_201380.3:c.11448G>A | NP_958782.1:p.Ala3816= | |
| NM_201381.2:c.10941G>A | NP_958783.1:p.Ala3647= | |
| NM_201382.3:c.11037G>A | NP_958784.1:p.Ala3679= | |
| NM_201383.2:c.11049G>A | NP_958785.1:p.Ala3683= | |
| NM_201384.2:c.11037G>A | NP_958786.1:p.Ala3679= | |
| XM_005250976.2:c.11463G>A | XP_005251033.1:p.Ala3821= | |
| XM_005250978.2:c.11064G>A | XP_005251035.1:p.Ala3688= | |
| XM_005250979.3:c.11052G>A | XP_005251036.1:p.Ala3684= | |
| XM_005250980.3:c.11052G>A | XP_005251037.1:p.Ala3684= | |
| XM_005250981.2:c.11010G>A | XP_005251038.1:p.Ala3670= | |
| XM_005250982.2:c.10986G>A | XP_005251039.1:p.Ala3662= | |
| XM_005250983.2:c.10968G>A | XP_005251040.1:p.Ala3656= | |
| XM_005250984.3:c.10956G>A | XP_005251041.1:p.Ala3652= | |
| XM_006716588.2:c.11133G>A | XP_006716651.1:p.Ala3711= | |
| XM_006716589.2:c.10983G>A | XP_006716652.1:p.Ala3661= | |
| XM_006716590.2:c.10983G>A | XP_006716653.1:p.Ala3661= | |
| XM_011517130.1:c.11052G>A | XP_011515432.1:p.Ala3684= | |
| XM_011517131.1:c.10968G>A | XP_011515433.1:p.Ala3656= | |
| XM_011517132.1:c.7683G>A | XP_011515434.1:p.Ala2561= | |
| XM_005250976.4:c.11463G>A | XP_005251033.1:p.Ala3821= | |
| XM_005250978.3:c.11064G>A | XP_005251035.1:p.Ala3688= | |
| XM_005250979.4:c.11052G>A | XP_005251036.1:p.Ala3684= | |
| XM_005250980.4:c.11052G>A | XP_005251037.1:p.Ala3684= | |
| XM_005250981.3:c.11010G>A | XP_005251038.1:p.Ala3670= | |
| XM_005250982.4:c.10986G>A | XP_005251039.1:p.Ala3662= | |
| XM_005250984.5:c.10956G>A | XP_005251041.1:p.Ala3652= | |
| XM_006716588.3:c.11133G>A | XP_006716651.1:p.Ala3711= | |
| XM_006716590.3:c.10983G>A | XP_006716653.1:p.Ala3661= | |
| XM_011517130.2:c.11052G>A | XP_011515432.1:p.Ala3684= | |
| XM_011517131.2:c.10968G>A | XP_011515433.1:p.Ala3656= | |
| XM_011517132.2:c.7683G>A | XP_011515434.1:p.Ala2561= | |
| NM_000445.5:c.11118G>A | NP_000436.2:p.Ala3706= | |
| NM_201378.4:c.10995G>A MANE Plus Clinical | NP_958780.1:p.Ala3665= | |
| NM_201379.3:c.10971G>A | NP_958781.1:p.Ala3657= | |
| NM_201380.4:c.11448G>A | NP_958782.1:p.Ala3816= | |
| NM_201381.3:c.10941G>A | NP_958783.1:p.Ala3647= | |
| NM_201382.4:c.11037G>A | NP_958784.1:p.Ala3679= | |
| NM_201383.3:c.11049G>A | NP_958785.1:p.Ala3683= | |
| NM_201384.3:c.11037G>A MANE Select | NP_958786.1:p.Ala3679= |