Linked Data
ClinVar Variation Id:
718448
ClinVar RCV Id:
RCV000891398
dbSNP Id:
rs754393094
ExAC:
8:6312704 C / T
gnomAD v2:
8-6312704-C-T
gnomAD v3:
8-6455183-C-T
gnomAD v4:
8-6455183-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6455183C>T , CM000670.2:g.6455183C>T | GRCh38 |
| NC_000008.10:g.6312704C>T , CM000670.1:g.6312704C>T | GRCh37 |
| NC_000008.9:g.6300112C>T | NCBI36 |
| NG_016619.1:g.53592C>T | |
| NG_016619.2:g.53592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687720.1:c.*1814C>T | ENSP00000510728.1:n.*1814C>T | |
| ENST00000687874.1:n.726C>T | ||
| ENST00000688101.1:c.1286C>T | ||
| ENST00000688388.1:c.1866C>T | ENSP00000510092.1:p.Asp622= | |
| ENST00000688658.1:n.706C>T | ||
| ENST00000688912.1:n.1877C>T | ||
| ENST00000689348.1:c.1866C>T | ENSP00000509554.1:p.Asp622= | |
| ENST00000689633.1:c.1866C>T | ENSP00000509054.1:p.Asp622= | |
| ENST00000689736.1:c.711C>T | ENSP00000509722.1:p.Asp237= | |
| ENST00000690159.1:c.*2145C>T | ENSP00000510482.1:n.*2145C>T | |
| ENST00000690708.1:c.711C>T | ENSP00000510400.1:p.Asp237= | |
| ENST00000690826.1:c.1866C>T | ENSP00000510536.1:p.Asp622= | |
| ENST00000691435.1:c.1866C>T | ENSP00000510652.1:p.Asp622= | |
| ENST00000691655.1:c.*721C>T | ENSP00000509652.1:n.*721C>T | |
| ENST00000692534.1:c.244C>T | ||
| ENST00000692836.1:c.1866C>T | ENSP00000509971.1:p.Asp622= | |
| ENST00000692938.1:c.1866C>T | ENSP00000509072.1:p.Asp622= | |
| ENST00000693231.1:c.*1606C>T | ENSP00000510764.1:n.*1606C>T | |
| ENST00000693528.1:n.99C>T | ||
| ENST00000344683.10:c.1866C>T MANE Select | ENSP00000342924.5:p.Asp622= | |
| ENST00000344683.9:c.1866C>T | ENSP00000342924.5:p.Asp622= | |
| NM_024596.3:c.1866C>T | NP_078872.2:p.Asp622= | |
| XM_011534755.1:c.1866C>T | XP_011533057.1:p.Asp622= | |
| XM_011534756.1:c.1866C>T | XP_011533058.1:p.Asp622= | |
| XM_011534757.1:c.1866C>T | XP_011533059.1:p.Asp622= | |
| XM_011534758.1:c.1866C>T | XP_011533060.1:p.Asp622= | |
| XM_011534759.1:c.1866C>T | XP_011533061.1:p.Asp622= | |
| XM_011534760.1:c.1341C>T | XP_011533062.1:p.Asp447= | |
| NM_001322042.1:c.1866C>T | NP_001308971.1:p.Asp622= | |
| NM_001363979.1:c.1866C>T | NP_001350908.1:p.Asp622= | |
| NM_001363980.1:c.1866C>T | NP_001350909.1:p.Asp622= | |
| NM_024596.4:c.1866C>T | NP_078872.2:p.Asp622= | |
| XM_011534755.3:c.1866C>T | XP_011533057.1:p.Asp622= | |
| XM_011534756.3:c.1866C>T | XP_011533058.1:p.Asp622= | |
| XM_011534757.3:c.1866C>T | XP_011533059.1:p.Asp622= | |
| XM_011534758.3:c.1866C>T | XP_011533060.1:p.Asp622= | |
| XM_011534759.3:c.1866C>T | XP_011533061.1:p.Asp622= | |
| XM_011534760.2:c.1341C>T | XP_011533062.1:p.Asp447= | |
| XM_017013829.2:c.1866C>T | XP_016869318.1:p.Asp622= | |
| XM_017013831.2:c.1866C>T | XP_016869320.1:p.Asp622= | |
| XM_017013832.2:c.1866C>T | XP_016869321.1:p.Asp622= | |
| XM_017013833.2:c.1866C>T | XP_016869322.1:p.Asp622= | |
| XR_001745596.2:n.1919C>T | ||
| NM_024596.5:c.1866C>T MANE Select | NP_078872.3:p.Asp622= | |
| NM_001322042.2:c.1866C>T | NP_001308971.2:p.Asp622= | |
| NM_001363980.2:c.1866C>T | NP_001350909.1:p.Asp622= |