Linked Data
ClinVar Variation Id:
281701
dbSNP Id:
rs781946435
ExAC:
8:144998870 C / T
gnomAD v2:
8-144998870-C-T
gnomAD v3:
8-143924702-C-T
gnomAD v4:
8-143924702-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143924702C>T , CM000670.2:g.143924702C>T | GRCh38 |
| NC_000008.10:g.144998870C>T , CM000670.1:g.144998870C>T | GRCh37 |
| NC_000008.9:g.145070858C>T | NCBI36 |
| NG_012492.1:g.57044G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.5359G>A | ENSP00000437303.2:p.Ala1787Thr | |
| ENST00000685198.1:c.5278G>A | ENSP00000510528.1:p.Ala1760Thr | |
| ENST00000687971.1:c.4945G>A | ENSP00000510788.1:p.Ala1649Thr | |
| ENST00000693060.1:c.5158G>A | ENSP00000510329.1:p.Ala1720Thr | |
| ENST00000345136.8:c.5227G>A MANE Select | ENSP00000344848.3:p.Ala1743Thr | |
| ENST00000527303.2:c.4125+2082G>A | ENSP00000433982.2:n.4125+2082G>A | |
| ENST00000322810.8:c.5638G>A | ENSP00000323856.4:p.Ala1880Thr | |
| ENST00000345136.7:c.5227G>A | ENSP00000344848.3:p.Ala1743Thr | |
| ENST00000354589.7:c.5227G>A | ENSP00000346602.3:p.Ala1743Thr | |
| ENST00000354958.6:c.5161G>A | ENSP00000347044.2:p.Ala1721Thr | |
| ENST00000356346.7:c.5185G>A MANE Plus Clinical | ENSP00000348702.3:p.Ala1729Thr | |
| ENST00000357649.6:c.5239G>A | ENSP00000350277.2:p.Ala1747Thr | |
| ENST00000398774.6:c.5131G>A | ENSP00000381756.2:p.Ala1711Thr | |
| ENST00000436759.6:c.5308G>A | ENSP00000388180.2:p.Ala1770Thr | |
| ENST00000527096.5:c.5296G>A | ENSP00000434583.1:p.Ala1766Thr | |
| ENST00000527303.1:c.134+2082G>A | ||
| NM_000445.4:c.5308G>A | NP_000436.2:p.Ala1770Thr | |
| NM_201378.3:c.5185G>A | NP_958780.1:p.Ala1729Thr | |
| NM_201379.2:c.5161G>A | NP_958781.1:p.Ala1721Thr | |
| NM_201380.3:c.5638G>A | NP_958782.1:p.Ala1880Thr | |
| NM_201381.2:c.5131G>A | NP_958783.1:p.Ala1711Thr | |
| NM_201382.3:c.5227G>A | NP_958784.1:p.Ala1743Thr | |
| NM_201383.2:c.5239G>A | NP_958785.1:p.Ala1747Thr | |
| NM_201384.2:c.5227G>A | NP_958786.1:p.Ala1743Thr | |
| XM_005250976.2:c.5653G>A | XP_005251033.1:p.Ala1885Thr | |
| XM_005250978.2:c.5254G>A | XP_005251035.1:p.Ala1752Thr | |
| XM_005250979.3:c.5242G>A | XP_005251036.1:p.Ala1748Thr | |
| XM_005250980.3:c.5242G>A | XP_005251037.1:p.Ala1748Thr | |
| XM_005250981.2:c.5200G>A | XP_005251038.1:p.Ala1734Thr | |
| XM_005250982.2:c.5176G>A | XP_005251039.1:p.Ala1726Thr | |
| XM_005250983.2:c.5158G>A | XP_005251040.1:p.Ala1720Thr | |
| XM_005250984.3:c.5146G>A | XP_005251041.1:p.Ala1716Thr | |
| XM_006716588.2:c.5323G>A | XP_006716651.1:p.Ala1775Thr | |
| XM_006716589.2:c.5173G>A | XP_006716652.1:p.Ala1725Thr | |
| XM_006716590.2:c.5173G>A | XP_006716653.1:p.Ala1725Thr | |
| XM_011517130.1:c.5242G>A | XP_011515432.1:p.Ala1748Thr | |
| XM_011517131.1:c.5158G>A | XP_011515433.1:p.Ala1720Thr | |
| XM_011517132.1:c.4071+2082G>A | XP_011515434.1:n.4071+2082G>A | |
| XM_005250976.4:c.5653G>A | XP_005251033.1:p.Ala1885Thr | |
| XM_005250978.3:c.5254G>A | XP_005251035.1:p.Ala1752Thr | |
| XM_005250979.4:c.5242G>A | XP_005251036.1:p.Ala1748Thr | |
| XM_005250980.4:c.5242G>A | XP_005251037.1:p.Ala1748Thr | |
| XM_005250981.3:c.5200G>A | XP_005251038.1:p.Ala1734Thr | |
| XM_005250982.4:c.5176G>A | XP_005251039.1:p.Ala1726Thr | |
| XM_005250984.5:c.5146G>A | XP_005251041.1:p.Ala1716Thr | |
| XM_006716588.3:c.5323G>A | XP_006716651.1:p.Ala1775Thr | |
| XM_006716590.3:c.5173G>A | XP_006716653.1:p.Ala1725Thr | |
| XM_011517130.2:c.5242G>A | XP_011515432.1:p.Ala1748Thr | |
| XM_011517131.2:c.5158G>A | XP_011515433.1:p.Ala1720Thr | |
| XM_011517132.2:c.4071+2082G>A | XP_011515434.1:n.4071+2082G>A | |
| NM_000445.5:c.5308G>A | NP_000436.2:p.Ala1770Thr | |
| NM_201378.4:c.5185G>A MANE Plus Clinical | NP_958780.1:p.Ala1729Thr | |
| NM_201379.3:c.5161G>A | NP_958781.1:p.Ala1721Thr | |
| NM_201380.4:c.5638G>A | NP_958782.1:p.Ala1880Thr | |
| NM_201381.3:c.5131G>A | NP_958783.1:p.Ala1711Thr | |
| NM_201382.4:c.5227G>A | NP_958784.1:p.Ala1743Thr | |
| NM_201383.3:c.5239G>A | NP_958785.1:p.Ala1747Thr | |
| NM_201384.3:c.5227G>A MANE Select | NP_958786.1:p.Ala1743Thr |