Linked Data
dbSNP Id:
rs757018981
ExAC:
3:10401606 G / A
gnomAD v2:
3-10401606-G-A
gnomAD v4:
3-10359922-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10359922G>A , CM000665.2:g.10359922G>A | GRCh38 |
| NC_000003.11:g.10401606G>A , CM000665.1:g.10401606G>A | GRCh37 |
| NC_000003.10:g.10376606G>A | NCBI36 |
| NG_012046.1:g.150663C>T | |
| NG_012046.2:g.353110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644807.2:c.1726C>T | ENSP00000495228.1:p.Arg576Cys | |
| ENST00000352432.9:c.1828C>T | ENSP00000324172.6:p.Arg610Cys | |
| ENST00000360273.7:c.1861C>T MANE Select | ENSP00000353414.2:p.Arg621Cys | |
| ENST00000397077.6:c.1726C>T | ENSP00000380267.1:p.Arg576Cys | |
| ENST00000452124.2:c.1768C>T | ENSP00000414854.2:p.Arg590Cys | |
| ENST00000638646.2:c.1726C>T | ENSP00000492732.2:p.Arg576Cys | |
| ENST00000643662.1:c.1768C>T | ENSP00000495924.1:p.Arg590Cys | |
| ENST00000644553.1:c.1120C>T | ENSP00000494004.1:p.Arg374Cys | |
| ENST00000644807.1:c.1726C>T | ENSP00000495228.1:p.Arg576Cys | |
| ENST00000645850.1:c.1861C>T | ENSP00000494716.1:p.Arg621Cys | |
| ENST00000646379.1:c.1726C>T | ENSP00000494381.1:p.Arg576Cys | |
| ENST00000352432.8:c.1861C>T | ENSP00000324172.5:p.Arg621Cys | |
| ENST00000360273.6:c.1861C>T | ENSP00000353414.2:p.Arg621Cys | |
| ENST00000383800.8:c.1726C>T | ENSP00000373311.4:p.Arg576Cys | |
| ENST00000397077.5:c.1726C>T | ENSP00000380267.1:p.Arg576Cys | |
| ENST00000452124.1:c.1429C>T | ENSP00000414854.1:p.Arg477Cys | |
| ENST00000460129.5:c.1726C>T | ENSP00000424494.1:p.Arg576Cys | |
| NM_001001331.2:c.1861C>T | NP_001001331.1:p.Arg621Cys | |
| NM_001683.3:c.1726C>T | NP_001674.2:p.Arg576Cys | |
| XM_005265179.3:c.1861C>T | XP_005265236.1:p.Arg621Cys | |
| XM_006713175.2:c.1861C>T | XP_006713238.1:p.Arg621Cys | |
| XM_011533751.1:c.1861C>T | XP_011532053.1:p.Arg621Cys | |
| XM_011533752.1:c.1861C>T | XP_011532054.1:p.Arg621Cys | |
| XM_011533753.1:c.1828C>T | XP_011532055.1:p.Arg610Cys | |
| XM_011533754.1:c.1768C>T | XP_011532056.1:p.Arg590Cys | |
| XM_011533755.1:c.1861C>T | XP_011532057.1:p.Arg621Cys | |
| XM_011533756.1:c.1861C>T | XP_011532058.1:p.Arg621Cys | |
| XM_011533757.1:c.1726C>T | XP_011532059.1:p.Arg576Cys | |
| XM_011533758.1:c.1768C>T | XP_011532060.1:p.Arg590Cys | |
| XM_011533759.1:c.793C>T | XP_011532061.1:p.Arg265Cys | |
| NM_001001331.3:c.1861C>T | NP_001001331.1:p.Arg621Cys | |
| NM_001330611.2:c.1726C>T | NP_001317540.1:p.Arg576Cys | |
| NM_001353564.1:c.1726C>T | NP_001340493.1:p.Arg576Cys | |
| NM_001363862.1:c.1726C>T | NP_001350791.1:p.Arg576Cys | |
| NM_001683.4:c.1726C>T | NP_001674.2:p.Arg576Cys | |
| XM_005265179.5:c.1861C>T | XP_005265236.1:p.Arg621Cys | |
| XM_006713175.4:c.1861C>T | XP_006713238.1:p.Arg621Cys | |
| XM_011533752.3:c.1861C>T | XP_011532054.1:p.Arg621Cys | |
| XM_017006481.2:c.1861C>T | XP_016861970.1:p.Arg621Cys | |
| XM_017006482.2:c.1861C>T | XP_016861971.1:p.Arg621Cys | |
| XM_017006483.2:c.1768C>T | XP_016861972.1:p.Arg590Cys | |
| XM_017006484.2:c.1768C>T | XP_016861973.1:p.Arg590Cys | |
| XM_017006485.2:c.1861C>T | XP_016861974.1:p.Arg621Cys | |
| XM_017006486.2:c.1861C>T | XP_016861975.1:p.Arg621Cys | |
| XM_017006487.1:c.1726C>T | XP_016861976.1:p.Arg576Cys | |
| XM_017006488.2:c.1768C>T | XP_016861977.1:p.Arg590Cys | |
| XM_017006489.2:c.1768C>T | XP_016861978.1:p.Arg590Cys | |
| XM_017006492.2:c.1861C>T | XP_016861981.1:p.Arg621Cys | |
| NM_001001331.4:c.1861C>T MANE Select | NP_001001331.1:p.Arg621Cys | |
| NM_001330611.3:c.1726C>T | NP_001317540.1:p.Arg576Cys | |
| NM_001683.5:c.1726C>T | NP_001674.2:p.Arg576Cys |