Linked Data
ClinVar Variation Id:
422940
ClinVar RCV Id:
RCV000478245
dbSNP Id:
rs1064796110
gnomAD v4:
1-6825193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6825193C>T , CM000663.2:g.6825193C>T | GRCh38 |
| NC_000001.10:g.6885253C>T , CM000663.1:g.6885253C>T | GRCh37 |
| NC_000001.9:g.6807840C>T | NCBI36 |
| NG_053148.1:g.44870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486138.2:c.*140C>T | ENSP00000452505.2:n.*140C>T | |
| ENST00000476864.2:c.217C>T | ENSP00000452319.2:p.Arg73Cys | |
| ENST00000700414.1:c.217C>T | ENSP00000514978.1:p.Arg73Cys | |
| ENST00000700415.1:c.127C>T | ENSP00000514979.1:p.Arg43Cys | |
| ENST00000700416.1:c.217C>T | ENSP00000514980.1:p.Arg73Cys | |
| ENST00000700417.1:c.217C>T | ENSP00000514981.1:p.Arg73Cys | |
| ENST00000700418.1:c.150C>T | ||
| ENST00000700444.1:c.127C>T | ENSP00000514992.1:p.Arg43Cys | |
| ENST00000303635.12:c.217C>T MANE Select | ENSP00000306522.6:p.Arg73Cys | |
| ENST00000303635.11:c.217C>T | ENSP00000306522.6:p.Arg73Cys | |
| ENST00000461311.1:c.196C>T | ENSP00000452184.1:p.Arg66Cys | |
| ENST00000467404.6:c.253C>T | ENSP00000450530.1:p.Arg85Cys | |
| ENST00000473578.5:c.217C>T | ENSP00000451388.1:p.Arg73Cys | |
| ENST00000476163.5:n.214C>T | ||
| ENST00000482934.1:c.84C>T | ||
| ENST00000486138.1:c.273C>T | ||
| ENST00000490738.5:n.224C>T | ||
| ENST00000557126.5:c.217C>T | ENSP00000451510.1:p.Arg73Cys | |
| NM_001195563.1:c.217C>T | NP_001182492.1:p.Arg73Cys | |
| NM_001242701.1:c.217C>T | NP_001229630.1:p.Arg73Cys | |
| NM_015215.3:c.217C>T | NP_056030.1:p.Arg73Cys | |
| NR_038934.1:n.354C>T | ||
| XM_011541083.1:c.217C>T | XP_011539385.1:p.Arg73Cys | |
| XM_011541084.1:c.217C>T | XP_011539386.1:p.Arg73Cys | |
| XM_011541085.1:c.205C>T | XP_011539387.1:p.Arg69Cys | |
| XM_011541086.1:c.217C>T | XP_011539388.1:p.Arg73Cys | |
| XM_011541087.1:c.217C>T | XP_011539389.1:p.Arg73Cys | |
| XM_011541088.1:c.127C>T | XP_011539390.1:p.Arg43Cys | |
| XM_011541089.1:c.217C>T | XP_011539391.1:p.Arg73Cys | |
| XM_011541090.1:c.217C>T | XP_011539392.1:p.Arg73Cys | |
| XM_011541091.1:c.217C>T | XP_011539393.1:p.Arg73Cys | |
| XM_011541092.1:c.217C>T | XP_011539394.1:p.Arg73Cys | |
| NM_001349608.1:c.127C>T | NP_001336537.1:p.Arg43Cys | |
| NM_001349609.1:c.217C>T | NP_001336538.1:p.Arg73Cys | |
| NM_001349610.1:c.217C>T | NP_001336539.1:p.Arg73Cys | |
| NM_001349612.1:c.127C>T | NP_001336541.1:p.Arg43Cys | |
| NM_001349627.1:c.253C>T | NP_001336556.1:p.Arg85Cys | |
| NR_146202.1:n.354C>T | ||
| NR_146203.1:n.354C>T | ||
| NR_146204.1:n.354C>T | ||
| XM_011541083.2:c.217C>T | XP_011539385.1:p.Arg73Cys | |
| XM_011541084.2:c.217C>T | XP_011539386.1:p.Arg73Cys | |
| XM_011541086.3:c.217C>T | XP_011539388.1:p.Arg73Cys | |
| XM_011541087.2:c.217C>T | XP_011539389.1:p.Arg73Cys | |
| XM_011541088.2:c.127C>T | XP_011539390.1:p.Arg43Cys | |
| XM_011541090.3:c.217C>T | XP_011539392.1:p.Arg73Cys | |
| XM_011541091.2:c.217C>T | XP_011539393.1:p.Arg73Cys | |
| XM_011541092.3:c.217C>T | XP_011539394.1:p.Arg73Cys | |
| XM_017000774.2:c.217C>T | XP_016856263.1:p.Arg73Cys | |
| XM_017000777.1:c.217C>T | XP_016856266.1:p.Arg73Cys | |
| XM_017000778.1:c.217C>T | XP_016856267.1:p.Arg73Cys | |
| XM_017000780.2:c.217C>T | XP_016856269.1:p.Arg73Cys | |
| XM_017000781.1:c.217C>T | XP_016856270.1:p.Arg73Cys | |
| XR_001737061.1:n.288C>T | ||
| XR_001737062.1:n.288C>T | ||
| XR_001737063.1:n.288C>T | ||
| XR_001737064.1:n.288C>T | ||
| XR_001737065.1:n.296C>T | ||
| XR_001737066.1:n.296C>T | ||
| NM_015215.4:c.217C>T MANE Select | NP_056030.1:p.Arg73Cys | |
| NM_001195563.2:c.217C>T | NP_001182492.1:p.Arg73Cys | |
| NM_001349608.2:c.127C>T | NP_001336537.1:p.Arg43Cys | |
| NM_001349609.2:c.217C>T | NP_001336538.1:p.Arg73Cys | |
| NM_001349610.2:c.217C>T | NP_001336539.1:p.Arg73Cys | |
| NM_001349612.2:c.127C>T | NP_001336541.1:p.Arg43Cys | |
| NM_001349627.2:c.253C>T | NP_001336556.1:p.Arg85Cys | |
| NR_146203.2:n.224C>T | ||
| NR_146204.2:n.224C>T | ||
| NM_001242701.2:c.217C>T | NP_001229630.1:p.Arg73Cys | |
| NR_038934.2:n.224C>T | ||
| NR_146202.2:n.224C>T |