Linked Data
ClinVar Variation Id:
502153
dbSNP Id:
rs782501584
ExAC:
8:144999513 C / T
gnomAD v2:
8-144999513-C-T
gnomAD v3:
8-143925345-C-T
gnomAD v4:
8-143925345-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143925345C>T , CM000670.2:g.143925345C>T | GRCh38 |
| NC_000008.10:g.144999513C>T , CM000670.1:g.144999513C>T | GRCh37 |
| NC_000008.9:g.145071501C>T | NCBI36 |
| NG_012492.1:g.56401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.4716G>A | ENSP00000437303.2:p.Ala1572= | |
| ENST00000685198.1:c.4635G>A | ENSP00000510528.1:p.Ala1545= | |
| ENST00000687971.1:c.4302G>A | ENSP00000510788.1:p.Ala1434= | |
| ENST00000693060.1:c.4515G>A | ENSP00000510329.1:p.Ala1505= | |
| ENST00000345136.8:c.4584G>A MANE Select | ENSP00000344848.3:p.Ala1528= | |
| ENST00000527303.2:c.4125+1439G>A | ENSP00000433982.2:n.4125+1439G>A | |
| ENST00000322810.8:c.4995G>A | ENSP00000323856.4:p.Ala1665= | |
| ENST00000345136.7:c.4584G>A | ENSP00000344848.3:p.Ala1528= | |
| ENST00000354589.7:c.4584G>A | ENSP00000346602.3:p.Ala1528= | |
| ENST00000354958.6:c.4518G>A | ENSP00000347044.2:p.Ala1506= | |
| ENST00000356346.7:c.4542G>A MANE Plus Clinical | ENSP00000348702.3:p.Ala1514= | |
| ENST00000357649.6:c.4596G>A | ENSP00000350277.2:p.Ala1532= | |
| ENST00000398774.6:c.4488G>A | ENSP00000381756.2:p.Ala1496= | |
| ENST00000436759.6:c.4665G>A | ENSP00000388180.2:p.Ala1555= | |
| ENST00000527096.5:c.4653G>A | ENSP00000434583.1:p.Ala1551= | |
| ENST00000527303.1:c.134+1439G>A | ||
| NM_000445.4:c.4665G>A | NP_000436.2:p.Ala1555= | |
| NM_201378.3:c.4542G>A | NP_958780.1:p.Ala1514= | |
| NM_201379.2:c.4518G>A | NP_958781.1:p.Ala1506= | |
| NM_201380.3:c.4995G>A | NP_958782.1:p.Ala1665= | |
| NM_201381.2:c.4488G>A | NP_958783.1:p.Ala1496= | |
| NM_201382.3:c.4584G>A | NP_958784.1:p.Ala1528= | |
| NM_201383.2:c.4596G>A | NP_958785.1:p.Ala1532= | |
| NM_201384.2:c.4584G>A | NP_958786.1:p.Ala1528= | |
| XM_005250976.2:c.5010G>A | XP_005251033.1:p.Ala1670= | |
| XM_005250978.2:c.4611G>A | XP_005251035.1:p.Ala1537= | |
| XM_005250979.3:c.4599G>A | XP_005251036.1:p.Ala1533= | |
| XM_005250980.3:c.4599G>A | XP_005251037.1:p.Ala1533= | |
| XM_005250981.2:c.4557G>A | XP_005251038.1:p.Ala1519= | |
| XM_005250982.2:c.4533G>A | XP_005251039.1:p.Ala1511= | |
| XM_005250983.2:c.4515G>A | XP_005251040.1:p.Ala1505= | |
| XM_005250984.3:c.4503G>A | XP_005251041.1:p.Ala1501= | |
| XM_006716588.2:c.4680G>A | XP_006716651.1:p.Ala1560= | |
| XM_006716589.2:c.4530G>A | XP_006716652.1:p.Ala1510= | |
| XM_006716590.2:c.4530G>A | XP_006716653.1:p.Ala1510= | |
| XM_011517130.1:c.4599G>A | XP_011515432.1:p.Ala1533= | |
| XM_011517131.1:c.4515G>A | XP_011515433.1:p.Ala1505= | |
| XM_011517132.1:c.4071+1439G>A | XP_011515434.1:n.4071+1439G>A | |
| XM_005250976.4:c.5010G>A | XP_005251033.1:p.Ala1670= | |
| XM_005250978.3:c.4611G>A | XP_005251035.1:p.Ala1537= | |
| XM_005250979.4:c.4599G>A | XP_005251036.1:p.Ala1533= | |
| XM_005250980.4:c.4599G>A | XP_005251037.1:p.Ala1533= | |
| XM_005250981.3:c.4557G>A | XP_005251038.1:p.Ala1519= | |
| XM_005250982.4:c.4533G>A | XP_005251039.1:p.Ala1511= | |
| XM_005250984.5:c.4503G>A | XP_005251041.1:p.Ala1501= | |
| XM_006716588.3:c.4680G>A | XP_006716651.1:p.Ala1560= | |
| XM_006716590.3:c.4530G>A | XP_006716653.1:p.Ala1510= | |
| XM_011517130.2:c.4599G>A | XP_011515432.1:p.Ala1533= | |
| XM_011517131.2:c.4515G>A | XP_011515433.1:p.Ala1505= | |
| XM_011517132.2:c.4071+1439G>A | XP_011515434.1:n.4071+1439G>A | |
| NM_000445.5:c.4665G>A | NP_000436.2:p.Ala1555= | |
| NM_201378.4:c.4542G>A MANE Plus Clinical | NP_958780.1:p.Ala1514= | |
| NM_201379.3:c.4518G>A | NP_958781.1:p.Ala1506= | |
| NM_201380.4:c.4995G>A | NP_958782.1:p.Ala1665= | |
| NM_201381.3:c.4488G>A | NP_958783.1:p.Ala1496= | |
| NM_201382.4:c.4584G>A | NP_958784.1:p.Ala1528= | |
| NM_201383.3:c.4596G>A | NP_958785.1:p.Ala1532= | |
| NM_201384.3:c.4584G>A MANE Select | NP_958786.1:p.Ala1528= |