Linked Data
ClinVar Variation Id:
214684
dbSNP Id:
rs147739245
ExAC:
3:139071543 C / T
gnomAD v2:
3-139071543-C-T
gnomAD v3:
3-139352701-C-T
gnomAD v4:
3-139352701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139352701C>T , CM000665.2:g.139352701C>T | GRCh38 |
| NC_000003.11:g.139071543C>T , CM000665.1:g.139071543C>T | GRCh37 |
| NC_000003.10:g.140554233C>T | NCBI36 |
| NG_012174.1:g.13683C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478464.6:c.577C>T | ENSP00000419303.2:p.Arg193Cys | |
| ENST00000480644.2:c.703C>T | ENSP00000420229.2:p.Arg235Cys | |
| ENST00000492644.2:n.3041C>T | ||
| ENST00000684961.1:c.406C>T | ENSP00000508439.1:p.Arg136Cys | |
| ENST00000686433.1:c.733C>T | ENSP00000509173.1:p.Arg245Cys | |
| ENST00000687538.1:c.577C>T | ENSP00000508887.1:p.Arg193Cys | |
| ENST00000688697.1:c.787C>T | ENSP00000510396.1:p.Arg263Cys | |
| ENST00000689286.1:c.577C>T | ENSP00000509897.1:p.Arg193Cys | |
| ENST00000689925.1:c.*128C>T | ENSP00000510082.1:n.*128C>T | |
| ENST00000690298.1:c.*428C>T | ENSP00000509376.1:n.*428C>T | |
| ENST00000691070.1:c.703C>T | ENSP00000509723.1:p.Arg235Cys | |
| ENST00000692727.1:n.3309C>T | ||
| ENST00000693155.1:n.1464C>T | ||
| ENST00000310776.9:c.784C>T | ENSP00000310785.5:p.Arg262Cys | |
| ENST00000680020.1:c.787C>T MANE Select | ENSP00000505414.1:p.Arg263Cys | |
| ENST00000310776.8:c.787C>T | ENSP00000310785.4:p.Arg263Cys | |
| ENST00000465056.5:c.784C>T | ENSP00000418233.1:p.Arg262Cys | |
| ENST00000478464.5:c.664C>T | ENSP00000419303.1:p.Arg222Cys | |
| ENST00000480644.1:c.272C>T | ||
| ENST00000480938.5:n.1441C>T | ||
| ENST00000492644.1:n.1832C>T | ||
| ENST00000495075.5:c.787C>T | ENSP00000418008.1:p.Arg263Cys | |
| ENST00000498505.5:c.*384C>T | ENSP00000420482.1:n.*384C>T | |
| NM_020191.2:c.787C>T | NP_064576.1:p.Arg263Cys | |
| XM_005247640.2:c.784C>T | XP_005247697.1:p.Arg262Cys | |
| XM_006713703.2:c.733C>T | XP_006713766.1:p.Arg245Cys | |
| XM_011512995.1:c.664C>T | XP_011511297.1:p.Arg222Cys | |
| XM_011512996.1:c.661C>T | XP_011511298.1:p.Arg221Cys | |
| NM_001363857.1:c.664C>T | NP_001350786.1:p.Arg222Cys | |
| NM_001363893.1:c.784C>T | NP_001350822.1:p.Arg262Cys | |
| NM_020191.3:c.787C>T | NP_064576.1:p.Arg263Cys | |
| XM_006713703.4:c.733C>T | XP_006713766.1:p.Arg245Cys | |
| XM_011512996.2:c.661C>T | XP_011511298.1:p.Arg221Cys | |
| NM_020191.4:c.787C>T MANE Select | NP_064576.1:p.Arg263Cys |