Linked Data
ClinVar Variation Id:
56724
dbSNP Id:
rs386834143
gnomAD v4:
6-41163043-C-A
PubMed:
PMID:12925681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41163043C>A , CM000668.2:g.41163043C>A | GRCh38 |
| NC_000006.11:g.41130781C>A , CM000668.1:g.41130781C>A | GRCh37 |
| NC_000006.10:g.41238759C>A | NCBI36 |
| NG_011561.1:g.5142G>T , LRG_631:g.5142G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.40G>T MANE Select | ENSP00000362205.3:p.Glu14Ter | |
| ENST00000338469.3:c.40G>T | ENSP00000342651.4:p.Glu14Ter | |
| ENST00000373113.7:c.40G>T | ENSP00000362205.3:p.Glu14Ter | |
| ENST00000373122.8:c.40G>T | ENSP00000362214.4:p.Glu14Ter | |
| NM_001271821.1:c.40G>T | NP_001258750.1:p.Glu14Ter | |
| NM_018965.3:c.40G>T , LRG_631t1:c.40G>T | NP_061838.1:p.Glu14Ter | |
| XM_006715116.2:c.130G>T | XP_006715179.1:p.Asp44Tyr | |
| XR_926795.1:n.222+7480C>A | ||
| XR_926796.1:n.214+7480C>A | ||
| XR_926797.1:n.188+7480C>A | ||
| XR_926795.2:n.517+7480C>A | ||
| XR_926797.2:n.232+7480C>A | ||
| NM_001271821.2:c.40G>T | NP_001258750.1:p.Glu14Ter | |
| NM_018965.4:c.40G>T MANE Select | NP_061838.1:p.Glu14Ter |