Linked Data
ClinVar Variation Id:
30454
ClinVar RCV Id:
RCV000023407
dbSNP Id:
rs387906896
gnomAD v4:
1-160349583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160349583C>T , CM000663.2:g.160349583C>T | GRCh38 |
| NC_000001.10:g.160319373C>T , CM000663.1:g.160319373C>T | GRCh37 |
| NC_000001.9:g.158585997C>T | NCBI36 |
| NG_027935.1:g.11311C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421914.6:c.349C>T (NCSTN) | ENSP00000390409.2:p.Arg117Ter | |
| ENST00000459963.6:c.349C>T (NCSTN) | ENSP00000493689.2:p.Arg117Ter | |
| ENST00000699526.1:n.452C>T (NCSTN) | ||
| ENST00000699527.1:c.349C>T (NCSTN) | ENSP00000514419.1:p.Arg117Ter | |
| ENST00000699528.1:c.349C>T (NCSTN) | ENSP00000514420.1:p.Arg117Ter | |
| ENST00000699529.1:n.430C>T (NCSTN) | ||
| ENST00000699530.1:c.349C>T (NCSTN) | ENSP00000514421.1:p.Arg117Ter | |
| ENST00000699531.1:n.430C>T (NCSTN) | ||
| ENST00000699532.1:c.349C>T (NCSTN) | ENSP00000514422.1:p.Arg117Ter | |
| ENST00000699533.1:n.430C>T (NCSTN) | ||
| ENST00000699534.1:n.430C>T (NCSTN) | ||
| ENST00000699535.1:n.430C>T (NCSTN) | ||
| ENST00000699536.1:n.430C>T (NCSTN) | ||
| ENST00000699537.1:n.430C>T (NCSTN) | ||
| ENST00000699538.1:c.349C>T (NCSTN) | ENSP00000514423.1:p.Arg117Ter | |
| ENST00000699539.1:n.430C>T (NCSTN) | ||
| ENST00000699540.1:c.349C>T (NCSTN) | ENSP00000514424.1:p.Arg117Ter | |
| ENST00000699541.1:c.349C>T (NCSTN) | ENSP00000514425.1:p.Arg117Ter | |
| ENST00000699542.1:n.430C>T (NCSTN) | ||
| ENST00000699543.1:c.349C>T (NCSTN) | ENSP00000514426.1:p.Arg117Ter | |
| ENST00000699544.1:n.430C>T (NCSTN) | ||
| ENST00000699545.1:c.349C>T (NCSTN) | ENSP00000514427.1:p.Arg117Ter | |
| ENST00000699546.1:c.349C>T (NCSTN) | ENSP00000514428.1:p.Arg117Ter | |
| ENST00000699547.1:n.430C>T (NCSTN) | ||
| ENST00000699548.1:n.430C>T (NCSTN) | ||
| ENST00000699549.1:c.349C>T (NCSTN) | ENSP00000514429.1:p.Arg117Ter | |
| ENST00000699550.1:n.430C>T (NCSTN) | ||
| ENST00000699551.1:n.430C>T (NCSTN) | ||
| ENST00000699552.1:n.430C>T (NCSTN) | ||
| ENST00000699553.1:c.244C>T (NCSTN) | ENSP00000514430.1:p.Arg82Ter | |
| ENST00000699554.1:c.191-2113C>T (NCSTN) | ENSP00000514431.1:n.191-2113C>T | |
| ENST00000699555.1:n.2438C>T (NCSTN) | ||
| ENST00000294785.10:c.349C>T (NCSTN) MANE Select | ENSP00000294785.5:p.Arg117Ter | |
| ENST00000368063.6:c.*278C>T (NCSTN) | ENSP00000357042.2:n.*278C>T | |
| ENST00000294785.9:c.349C>T (NCSTN) | ENSP00000294785.5:p.Arg117Ter | |
| ENST00000368063.5:c.289C>T (NCSTN) | ENSP00000357042.1:p.Arg97Ter | |
| ENST00000421914.5:c.349C>T (NCSTN) | ENSP00000390409.1:p.Arg117Ter | |
| ENST00000438008.5:c.448C>T (NCSTN) | ENSP00000389370.1:p.Arg150Ter | |
| ENST00000467837.5:n.538C>T (NCSTN) | ||
| ENST00000491332.1:n.405C>T (NCSTN) | ||
| NM_001290184.1:c.289C>T (NCSTN) | NP_001277113.1:p.Arg97Ter | |
| NM_001290186.1:c.349C>T (NCSTN) | NP_001277115.1:p.Arg117Ter | |
| NM_015331.2:c.349C>T (NCSTN) | NP_056146.1:p.Arg117Ter | |
| XM_005245053.3:c.349C>T (NCSTN) | XP_005245110.1:p.Arg117Ter | |
| XM_011509363.1:c.349C>T (NCSTN) | XP_011507665.1:p.Arg117Ter | |
| XM_011509364.1:c.67C>T (NCSTN) | XP_011507666.1:p.Arg23Ter | |
| XM_011509584.1:c.-175-20974C>T (NHLH1) | XP_011507886.1:n.-175-20974C>T | |
| NM_001349729.1:c.349C>T (NCSTN) | NP_001336658.1:p.Arg117Ter | |
| XM_005245053.5:c.349C>T (NCSTN) | XP_005245110.1:p.Arg117Ter | |
| NM_015331.3:c.349C>T (NCSTN) MANE Select | NP_056146.1:p.Arg117Ter | |
| NM_001290184.2:c.289C>T (NCSTN) | NP_001277113.1:p.Arg97Ter | |
| NM_001290186.2:c.349C>T (NCSTN) | NP_001277115.1:p.Arg117Ter | |
| NM_001349729.2:c.349C>T (NCSTN) | NP_001336658.1:p.Arg117Ter |