Linked Data
ClinVar Variation Id:
161772
ClinVar RCV Id:
RCV000149308
dbSNP Id:
rs193920942
ExAC:
13:46933745 G / A
gnomAD v2:
13-46933745-G-A
gnomAD v3:
13-46359610-G-A
gnomAD v4:
13-46359610-G-A
COSMIC:
COSM1178699
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46359610G>A , CM000675.2:g.46359610G>A | GRCh38 |
| NC_000013.10:g.46933745G>A , CM000675.1:g.46933745G>A | GRCh37 |
| NC_000013.9:g.45831746G>A | NCBI36 |
| NG_053064.1:g.35433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417405.2:c.1141C>T | ENSP00000402357.2:p.Arg381Ter | |
| ENST00000429979.6:c.1141C>T MANE Select | ENSP00000396935.1:p.Arg381Ter | |
| ENST00000441284.6:c.*492C>T | ENSP00000412507.2:n.*492C>T | |
| ENST00000675291.1:c.*617C>T | ENSP00000502306.1:n.*617C>T | |
| ENST00000675585.1:c.940C>T | ENSP00000502011.1:p.Arg314Ter | |
| ENST00000675992.1:c.496C>T | ENSP00000502396.1:p.Arg166Ter | |
| ENST00000676051.1:c.736C>T | ENSP00000501843.1:p.Arg246Ter | |
| ENST00000676063.1:c.1141C>T | ENSP00000501621.1:p.Arg381Ter | |
| ENST00000676084.1:c.*646C>T | ENSP00000502430.1:n.*646C>T | |
| ENST00000676114.1:c.1141C>T | ENSP00000502252.1:p.Arg381Ter | |
| ENST00000676307.1:c.1141C>T | ENSP00000502015.1:p.Arg381Ter | |
| ENST00000378781.7:c.670C>T | ENSP00000368057.4:p.Arg224Ter | |
| ENST00000378784.8:c.940C>T | ENSP00000368061.4:p.Arg314Ter | |
| ENST00000378787.7:c.1141C>T | ENSP00000368064.3:p.Arg381Ter | |
| ENST00000378797.6:c.496C>T | ENSP00000368074.3:p.Arg166Ter | |
| ENST00000389908.7:c.1141C>T | ENSP00000374558.3:p.Arg381Ter | |
| ENST00000409879.6:c.670C>T | ENSP00000386578.2:p.Arg224Ter | |
| ENST00000429979.5:c.1141C>T | ENSP00000396935.1:p.Arg381Ter | |
| ENST00000441284.5:c.*281C>T | ENSP00000412507.1:n.*281C>T | |
| ENST00000631139.2:c.736C>T | ENSP00000485932.1:p.Arg246Ter | |
| NM_001286761.1:c.1141C>T | NP_001273690.1:p.Arg381Ter | |
| NM_001286762.1:c.1141C>T | NP_001273691.1:p.Arg381Ter | |
| NM_001286763.1:c.940C>T | NP_001273692.1:p.Arg314Ter | |
| NM_001286764.1:c.736C>T | NP_001273693.1:p.Arg246Ter | |
| NM_001286765.1:c.670C>T | NP_001273694.1:p.Arg224Ter | |
| NM_001286766.1:c.496C>T | NP_001273695.1:p.Arg166Ter | |
| NM_025113.3:c.1141C>T | NP_079389.2:p.Arg381Ter | |
| NM_001286761.2:c.1141C>T | NP_001273690.1:p.Arg381Ter | |
| NM_001286762.2:c.1141C>T | NP_001273691.1:p.Arg381Ter | |
| NM_001286763.2:c.940C>T | NP_001273692.1:p.Arg314Ter | |
| NM_001286764.2:c.736C>T | NP_001273693.1:p.Arg246Ter | |
| NM_001286765.2:c.670C>T | NP_001273694.1:p.Arg224Ter | |
| NM_001286766.2:c.496C>T | NP_001273695.1:p.Arg166Ter | |
| NM_001349772.1:c.1141C>T | NP_001336701.1:p.Arg381Ter | |
| NM_025113.4:c.1141C>T | NP_079389.2:p.Arg381Ter | |
| NM_001286762.3:c.1141C>T | NP_001273691.1:p.Arg381Ter | |
| NM_001286763.3:c.940C>T | NP_001273692.1:p.Arg314Ter | |
| NM_001286764.3:c.736C>T | NP_001273693.1:p.Arg246Ter | |
| NM_001349772.2:c.1141C>T | NP_001336701.1:p.Arg381Ter | |
| NM_001286765.3:c.670C>T | NP_001273694.1:p.Arg224Ter | |
| NM_001286766.3:c.496C>T | NP_001273695.1:p.Arg166Ter | |
| NM_025113.5:c.1141C>T MANE Select | NP_079389.2:p.Arg381Ter |