Linked Data
ClinVar Variation Id:
196718
dbSNP Id:
rs554561043
ExAC:
8:144999258 C / T
gnomAD v2:
8-144999258-C-T
gnomAD v3:
8-143925090-C-T
gnomAD v4:
8-143925090-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143925090C>T , CM000670.2:g.143925090C>T | GRCh38 |
| NC_000008.10:g.144999258C>T , CM000670.1:g.144999258C>T | GRCh37 |
| NC_000008.9:g.145071246C>T | NCBI36 |
| NG_012492.1:g.56656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.4971G>A | ENSP00000437303.2:p.Arg1657= | |
| ENST00000685198.1:c.4890G>A | ENSP00000510528.1:p.Arg1630= | |
| ENST00000687971.1:c.4557G>A | ENSP00000510788.1:p.Arg1519= | |
| ENST00000693060.1:c.4770G>A | ENSP00000510329.1:p.Arg1590= | |
| ENST00000345136.8:c.4839G>A MANE Select | ENSP00000344848.3:p.Arg1613= | |
| ENST00000527303.2:c.4125+1694G>A | ENSP00000433982.2:n.4125+1694G>A | |
| ENST00000322810.8:c.5250G>A | ENSP00000323856.4:p.Arg1750= | |
| ENST00000345136.7:c.4839G>A | ENSP00000344848.3:p.Arg1613= | |
| ENST00000354589.7:c.4839G>A | ENSP00000346602.3:p.Arg1613= | |
| ENST00000354958.6:c.4773G>A | ENSP00000347044.2:p.Arg1591= | |
| ENST00000356346.7:c.4797G>A MANE Plus Clinical | ENSP00000348702.3:p.Arg1599= | |
| ENST00000357649.6:c.4851G>A | ENSP00000350277.2:p.Arg1617= | |
| ENST00000398774.6:c.4743G>A | ENSP00000381756.2:p.Arg1581= | |
| ENST00000436759.6:c.4920G>A | ENSP00000388180.2:p.Arg1640= | |
| ENST00000527096.5:c.4908G>A | ENSP00000434583.1:p.Arg1636= | |
| ENST00000527303.1:c.134+1694G>A | ||
| NM_000445.4:c.4920G>A | NP_000436.2:p.Arg1640= | |
| NM_201378.3:c.4797G>A | NP_958780.1:p.Arg1599= | |
| NM_201379.2:c.4773G>A | NP_958781.1:p.Arg1591= | |
| NM_201380.3:c.5250G>A | NP_958782.1:p.Arg1750= | |
| NM_201381.2:c.4743G>A | NP_958783.1:p.Arg1581= | |
| NM_201382.3:c.4839G>A | NP_958784.1:p.Arg1613= | |
| NM_201383.2:c.4851G>A | NP_958785.1:p.Arg1617= | |
| NM_201384.2:c.4839G>A | NP_958786.1:p.Arg1613= | |
| XM_005250976.2:c.5265G>A | XP_005251033.1:p.Arg1755= | |
| XM_005250978.2:c.4866G>A | XP_005251035.1:p.Arg1622= | |
| XM_005250979.3:c.4854G>A | XP_005251036.1:p.Arg1618= | |
| XM_005250980.3:c.4854G>A | XP_005251037.1:p.Arg1618= | |
| XM_005250981.2:c.4812G>A | XP_005251038.1:p.Arg1604= | |
| XM_005250982.2:c.4788G>A | XP_005251039.1:p.Arg1596= | |
| XM_005250983.2:c.4770G>A | XP_005251040.1:p.Arg1590= | |
| XM_005250984.3:c.4758G>A | XP_005251041.1:p.Arg1586= | |
| XM_006716588.2:c.4935G>A | XP_006716651.1:p.Arg1645= | |
| XM_006716589.2:c.4785G>A | XP_006716652.1:p.Arg1595= | |
| XM_006716590.2:c.4785G>A | XP_006716653.1:p.Arg1595= | |
| XM_011517130.1:c.4854G>A | XP_011515432.1:p.Arg1618= | |
| XM_011517131.1:c.4770G>A | XP_011515433.1:p.Arg1590= | |
| XM_011517132.1:c.4071+1694G>A | XP_011515434.1:n.4071+1694G>A | |
| XM_005250976.4:c.5265G>A | XP_005251033.1:p.Arg1755= | |
| XM_005250978.3:c.4866G>A | XP_005251035.1:p.Arg1622= | |
| XM_005250979.4:c.4854G>A | XP_005251036.1:p.Arg1618= | |
| XM_005250980.4:c.4854G>A | XP_005251037.1:p.Arg1618= | |
| XM_005250981.3:c.4812G>A | XP_005251038.1:p.Arg1604= | |
| XM_005250982.4:c.4788G>A | XP_005251039.1:p.Arg1596= | |
| XM_005250984.5:c.4758G>A | XP_005251041.1:p.Arg1586= | |
| XM_006716588.3:c.4935G>A | XP_006716651.1:p.Arg1645= | |
| XM_006716590.3:c.4785G>A | XP_006716653.1:p.Arg1595= | |
| XM_011517130.2:c.4854G>A | XP_011515432.1:p.Arg1618= | |
| XM_011517131.2:c.4770G>A | XP_011515433.1:p.Arg1590= | |
| XM_011517132.2:c.4071+1694G>A | XP_011515434.1:n.4071+1694G>A | |
| NM_000445.5:c.4920G>A | NP_000436.2:p.Arg1640= | |
| NM_201378.4:c.4797G>A MANE Plus Clinical | NP_958780.1:p.Arg1599= | |
| NM_201379.3:c.4773G>A | NP_958781.1:p.Arg1591= | |
| NM_201380.4:c.5250G>A | NP_958782.1:p.Arg1750= | |
| NM_201381.3:c.4743G>A | NP_958783.1:p.Arg1581= | |
| NM_201382.4:c.4839G>A | NP_958784.1:p.Arg1613= | |
| NM_201383.3:c.4851G>A | NP_958785.1:p.Arg1617= | |
| NM_201384.3:c.4839G>A MANE Select | NP_958786.1:p.Arg1613= |