Linked Data
ClinVar Variation Id:
424577
ClinVar RCV Id:
RCV000483776
dbSNP Id:
rs778841660
ExAC:
19:36595452 C / T
gnomAD v2:
19-36595452-C-T
gnomAD v3:
19-36104550-C-T
gnomAD v4:
19-36104550-C-T
COSMIC:
COSM3199502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36104550C>T , CM000681.2:g.36104550C>T | GRCh38 |
| NC_000019.9:g.36595452C>T , CM000681.1:g.36595452C>T | GRCh37 |
| NC_000019.8:g.41287292C>T | NCBI36 |
| NG_028101.1:g.54670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.4171C>T | ENSP00000270301.6:p.Arg1391Cys | |
| ENST00000401500.7:c.4186C>T MANE Select | ENSP00000384792.1:p.Arg1396Cys | |
| ENST00000587391.6:c.*4046C>T | ENSP00000465525.1:n.*4046C>T | |
| ENST00000679357.1:c.2266C>T | ||
| ENST00000679598.1:c.931C>T | ||
| ENST00000679682.1:c.4171C>T | ENSP00000506226.1:p.Arg1391Cys | |
| ENST00000679714.1:c.4180C>T | ENSP00000506627.1:p.Arg1394Cys | |
| ENST00000679757.1:c.3835C>T | ENSP00000505158.1:p.Arg1279Cys | |
| ENST00000679858.1:c.*3568C>T | ENSP00000505655.1:n.*3568C>T | |
| ENST00000680211.1:c.787C>T | ENSP00000506102.1:p.Arg263Cys | |
| ENST00000680280.1:n.1689C>T | ||
| ENST00000680349.1:n.2835C>T | ||
| ENST00000680403.1:c.4171C>T | ENSP00000505677.1:p.Arg1391Cys | |
| ENST00000680564.1:c.3937C>T | ENSP00000505582.1:p.Arg1313Cys | |
| ENST00000680590.1:c.*2566C>T | ENSP00000505350.1:n.*2566C>T | |
| ENST00000680597.1:c.919C>T | ||
| ENST00000680739.1:c.1201C>T | ||
| ENST00000680773.1:n.2687C>T | ||
| ENST00000680806.1:c.*3489C>T | ENSP00000506418.1:n.*3489C>T | |
| ENST00000680997.1:n.2118C>T | ||
| ENST00000681608.1:n.2031C>T | ||
| ENST00000681625.1:c.*1518C>T | ENSP00000505555.1:n.*1518C>T | |
| ENST00000681648.1:n.2237C>T | ||
| ENST00000270301.11:c.4171C>T | ENSP00000270301.6:p.Arg1391Cys | |
| ENST00000401500.6:c.4186C>T | ENSP00000384792.1:p.Arg1396Cys | |
| ENST00000587391.5:c.*4046C>T | ENSP00000465525.1:n.*4046C>T | |
| NM_001083961.1:c.4186C>T | NP_001077430.1:p.Arg1396Cys | |
| NM_173636.4:c.4171C>T | NP_775907.4:p.Arg1391Cys | |
| XM_005258809.2:c.4075C>T | XP_005258866.1:p.Arg1359Cys | |
| XM_011526837.1:c.4171C>T | XP_011525139.1:p.Arg1391Cys | |
| XM_011526838.1:c.3937C>T | XP_011525140.1:p.Arg1313Cys | |
| XM_011526839.1:c.3835C>T | XP_011525141.1:p.Arg1279Cys | |
| XM_011526840.1:c.3178C>T | XP_011525142.1:p.Arg1060Cys | |
| XM_011526841.1:c.2764C>T | XP_011525143.1:p.Arg922Cys | |
| XM_011526842.1:c.2617C>T | XP_011525144.1:p.Arg873Cys | |
| XM_011526843.1:c.1933C>T | XP_011525145.1:p.Arg645Cys | |
| XM_011526844.1:c.1933C>T | XP_011525146.1:p.Arg645Cys | |
| XM_011526840.2:c.3178C>T | XP_011525142.1:p.Arg1060Cys | |
| XM_011526841.2:c.2764C>T | XP_011525143.1:p.Arg922Cys | |
| XM_011526844.2:c.1933C>T | XP_011525146.1:p.Arg645Cys | |
| XM_017026665.1:c.4186C>T | XP_016882154.1:p.Arg1396Cys | |
| NM_001083961.2:c.4186C>T MANE Select | NP_001077430.1:p.Arg1396Cys | |
| NM_173636.5:c.4171C>T | NP_775907.4:p.Arg1391Cys |