Linked Data
ClinVar Variation Id:
422182
ClinVar RCV Id:
RCV000482805
dbSNP Id:
rs1064795610
gnomAD v2:
13-26106413-C-T
gnomAD v4:
13-25532275-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.25532275C>T , CM000675.2:g.25532275C>T | GRCh38 |
| NC_000013.10:g.26106413C>T , CM000675.1:g.26106413C>T | GRCh37 |
| NC_000013.9:g.25004413C>T | NCBI36 |
| NG_042855.1:g.165265C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281620.11:c.414C>T | ENSP00000281620.7:n.414C>T | |
| ENST00000682472.1:c.424C>T | ENSP00000508103.1:p.Arg142Ter | |
| ENST00000682580.1:n.376C>T | ||
| ENST00000682942.1:n.865C>T | ||
| ENST00000682943.1:c.225C>T | ENSP00000507323.1:p.Ser75= | |
| ENST00000683303.1:c.424C>T | ENSP00000508339.1:p.Arg142Ter | |
| ENST00000683845.1:n.864C>T | ||
| ENST00000683945.1:n.336C>T | ||
| ENST00000683960.1:c.424C>T | ENSP00000506846.1:p.Arg142Ter | |
| ENST00000684025.1:n.489C>T | ||
| ENST00000684283.1:c.424C>T | ENSP00000507994.1:p.Arg142Ter | |
| ENST00000684424.1:c.304C>T | ENSP00000507489.1:p.Arg102Ter | |
| ENST00000381655.7:c.424C>T MANE Select | ENSP00000371070.2:p.Arg142Ter | |
| ENST00000255283.9:c.304C>T | ENSP00000255283.9:p.Arg102Ter | |
| ENST00000281620.10:c.-57C>T | ENSP00000281620.6:n.-57C>T | |
| ENST00000381648.7:n.348C>T | ||
| ENST00000381655.6:c.424C>T | ENSP00000371070.2:p.Arg142Ter | |
| NM_001313741.1:c.304C>T | NP_001300670.1:p.Arg102Ter | |
| NM_016529.4:c.424C>T | NP_057613.4:p.Arg142Ter | |
| NM_016529.5:c.424C>T | NP_057613.4:p.Arg142Ter | |
| XM_005266419.1:c.304C>T | XP_005266476.1:p.Arg102Ter | |
| XM_011535103.1:c.424C>T | XP_011533405.1:p.Arg142Ter | |
| XM_011535104.1:c.304C>T | XP_011533406.1:p.Arg102Ter | |
| XM_011535106.1:c.424C>T | XP_011533408.1:p.Arg142Ter | |
| XM_011535107.1:c.424C>T | XP_011533409.1:p.Arg142Ter | |
| XM_011535108.1:c.-57C>T | XP_011533410.1:n.-57C>T | |
| XM_011535109.1:c.-57C>T | XP_011533411.1:n.-57C>T | |
| XM_011535110.1:c.-52C>T | XP_011533412.1:n.-52C>T | |
| XM_011535111.1:c.-52C>T | XP_011533413.1:n.-52C>T | |
| XM_011535112.1:c.-57C>T | XP_011533414.1:n.-57C>T | |
| XM_011535113.1:c.424C>T | XP_011533415.1:p.Arg142Ter | |
| XM_011535114.1:c.424C>T | XP_011533416.1:p.Arg142Ter | |
| XM_011535104.3:c.304C>T | XP_011533406.1:p.Arg102Ter | |
| XM_011535107.3:c.424C>T | XP_011533409.1:p.Arg142Ter | |
| XM_011535109.3:c.-57C>T | XP_011533411.1:n.-57C>T | |
| XM_011535113.2:c.424C>T | XP_011533415.1:p.Arg142Ter | |
| XM_017020625.2:c.424C>T | XP_016876114.1:p.Arg142Ter | |
| XM_017020626.1:c.424C>T | XP_016876115.1:p.Arg142Ter | |
| NM_016529.6:c.424C>T MANE Select | NP_057613.4:p.Arg142Ter |