Linked Data
ClinVar Variation Id:
196814
dbSNP Id:
rs202153947
ExAC:
8:144990918 G / A
gnomAD v2:
8-144990918-G-A
gnomAD v3:
8-143916750-G-A
gnomAD v4:
8-143916750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143916750G>A , CM000670.2:g.143916750G>A | GRCh38 |
| NC_000008.10:g.144990918G>A , CM000670.1:g.144990918G>A | GRCh37 |
| NC_000008.9:g.145062906G>A | NCBI36 |
| NG_012492.1:g.64996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13203C>T | ENSP00000437303.2:p.Cys4401= | |
| ENST00000685198.1:c.13122C>T | ENSP00000510528.1:p.Cys4374= | |
| ENST00000687971.1:c.12789C>T | ENSP00000510788.1:p.Cys4263= | |
| ENST00000693060.1:c.13002C>T | ENSP00000510329.1:p.Cys4334= | |
| ENST00000345136.8:c.13071C>T MANE Select | ENSP00000344848.3:p.Cys4357= | |
| ENST00000527303.2:c.9771C>T | ENSP00000433982.2:p.Cys3257= | |
| ENST00000322810.8:c.13482C>T | ENSP00000323856.4:p.Cys4494= | |
| ENST00000345136.7:c.13071C>T | ENSP00000344848.3:p.Cys4357= | |
| ENST00000354589.7:c.13071C>T | ENSP00000346602.3:p.Cys4357= | |
| ENST00000354958.6:c.13005C>T | ENSP00000347044.2:p.Cys4335= | |
| ENST00000356346.7:c.13029C>T MANE Plus Clinical | ENSP00000348702.3:p.Cys4343= | |
| ENST00000357649.6:c.13083C>T | ENSP00000350277.2:p.Cys4361= | |
| ENST00000398774.6:c.12975C>T | ENSP00000381756.2:p.Cys4325= | |
| ENST00000436759.6:c.13152C>T | ENSP00000388180.2:p.Cys4384= | |
| ENST00000527096.5:c.13140C>T | ENSP00000434583.1:p.Cys4380= | |
| NM_000445.4:c.13152C>T | NP_000436.2:p.Cys4384= | |
| NM_201378.3:c.13029C>T | NP_958780.1:p.Cys4343= | |
| NM_201379.2:c.13005C>T | NP_958781.1:p.Cys4335= | |
| NM_201380.3:c.13482C>T | NP_958782.1:p.Cys4494= | |
| NM_201381.2:c.12975C>T | NP_958783.1:p.Cys4325= | |
| NM_201382.3:c.13071C>T | NP_958784.1:p.Cys4357= | |
| NM_201383.2:c.13083C>T | NP_958785.1:p.Cys4361= | |
| NM_201384.2:c.13071C>T | NP_958786.1:p.Cys4357= | |
| XM_005250976.2:c.13497C>T | XP_005251033.1:p.Cys4499= | |
| XM_005250978.2:c.13098C>T | XP_005251035.1:p.Cys4366= | |
| XM_005250979.3:c.13086C>T | XP_005251036.1:p.Cys4362= | |
| XM_005250980.3:c.13086C>T | XP_005251037.1:p.Cys4362= | |
| XM_005250981.2:c.13044C>T | XP_005251038.1:p.Cys4348= | |
| XM_005250982.2:c.13020C>T | XP_005251039.1:p.Cys4340= | |
| XM_005250983.2:c.13002C>T | XP_005251040.1:p.Cys4334= | |
| XM_005250984.3:c.12990C>T | XP_005251041.1:p.Cys4330= | |
| XM_006716588.2:c.13167C>T | XP_006716651.1:p.Cys4389= | |
| XM_006716589.2:c.13017C>T | XP_006716652.1:p.Cys4339= | |
| XM_006716590.2:c.13017C>T | XP_006716653.1:p.Cys4339= | |
| XM_011517130.1:c.13086C>T | XP_011515432.1:p.Cys4362= | |
| XM_011517131.1:c.13002C>T | XP_011515433.1:p.Cys4334= | |
| XM_011517132.1:c.9717C>T | XP_011515434.1:p.Cys3239= | |
| XM_005250976.4:c.13497C>T | XP_005251033.1:p.Cys4499= | |
| XM_005250978.3:c.13098C>T | XP_005251035.1:p.Cys4366= | |
| XM_005250979.4:c.13086C>T | XP_005251036.1:p.Cys4362= | |
| XM_005250980.4:c.13086C>T | XP_005251037.1:p.Cys4362= | |
| XM_005250981.3:c.13044C>T | XP_005251038.1:p.Cys4348= | |
| XM_005250982.4:c.13020C>T | XP_005251039.1:p.Cys4340= | |
| XM_005250984.5:c.12990C>T | XP_005251041.1:p.Cys4330= | |
| XM_006716588.3:c.13167C>T | XP_006716651.1:p.Cys4389= | |
| XM_006716590.3:c.13017C>T | XP_006716653.1:p.Cys4339= | |
| XM_011517130.2:c.13086C>T | XP_011515432.1:p.Cys4362= | |
| XM_011517131.2:c.13002C>T | XP_011515433.1:p.Cys4334= | |
| XM_011517132.2:c.9717C>T | XP_011515434.1:p.Cys3239= | |
| NM_000445.5:c.13152C>T | NP_000436.2:p.Cys4384= | |
| NM_201378.4:c.13029C>T MANE Plus Clinical | NP_958780.1:p.Cys4343= | |
| NM_201379.3:c.13005C>T | NP_958781.1:p.Cys4335= | |
| NM_201380.4:c.13482C>T | NP_958782.1:p.Cys4494= | |
| NM_201381.3:c.12975C>T | NP_958783.1:p.Cys4325= | |
| NM_201382.4:c.13071C>T | NP_958784.1:p.Cys4357= | |
| NM_201383.3:c.13083C>T | NP_958785.1:p.Cys4361= | |
| NM_201384.3:c.13071C>T MANE Select | NP_958786.1:p.Cys4357= |