Linked Data
ClinVar Variation Id:
14005
ClinVar RCV Id:
RCV000015042
dbSNP Id:
rs121913665
gnomAD v4:
14-35404605-C-A
PubMed:
PMID:18412279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35404605C>A , CM000676.2:g.35404605C>A | GRCh38 |
| NC_000014.8:g.35873811C>A , CM000676.1:g.35873811C>A | GRCh37 |
| NC_000014.7:g.34943562C>A | NCBI36 |
| NG_007571.1:g.5134G>T , LRG_89:g.5134G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553342.2:c.40G>T | ENSP00000451281.2:p.Glu14Ter | |
| ENST00000557459.2:n.138G>T | ||
| ENST00000697957.1:n.145G>T | ||
| ENST00000697958.1:n.138G>T | ||
| ENST00000697959.1:n.145G>T | ||
| ENST00000697960.1:n.125G>T | ||
| ENST00000697961.1:c.40G>T | ENSP00000513487.1:p.Glu14Ter | |
| ENST00000697966.1:n.58G>T | ||
| ENST00000216797.10:c.40G>T MANE Select | ENSP00000216797.6:p.Glu14Ter | |
| ENST00000216797.9:c.40G>T | ENSP00000216797.5:p.Glu14Ter | |
| ENST00000553342.1:c.40G>T | ENSP00000451281.1:p.Glu14Ter | |
| ENST00000554001.5:c.40G>T | ENSP00000450537.1:p.Glu14Ter | |
| ENST00000555629.1:n.145G>T | ||
| ENST00000557100.5:n.96G>T | ||
| ENST00000557140.5:c.40G>T | ENSP00000451257.1:p.Glu14Ter | |
| ENST00000557459.1:n.138G>T | ||
| NM_020529.2:c.40G>T , LRG_89t1:c.40G>T | NP_065390.1:p.Glu14Ter | |
| NM_020529.3:c.40G>T MANE Select | NP_065390.1:p.Glu14Ter |