Linked Data
ClinVar Variation Id:
196013
ClinVar RCV Id:
RCV000176725
dbSNP Id:
rs794727436
gnomAD v4:
14-21395816-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21395816C>T , CM000676.2:g.21395816C>T | GRCh38 |
| NC_000014.8:g.21863975C>T , CM000676.1:g.21863975C>T | GRCh37 |
| NC_000014.7:g.20933815C>T | NCBI36 |
| NG_021249.1:g.46483G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.4290+1G>A | ENSP00000406288.3:n.4290+1G>A | |
| ENST00000555935.2:c.2827+1G>A | ||
| ENST00000555962.6:c.*512+1G>A | ENSP00000495174.1:n.*512+1G>A | |
| ENST00000557364.6:c.5127+1G>A | ENSP00000451601.1:n.5127+1G>A | |
| ENST00000643469.1:c.5127+1G>A | ENSP00000495070.1:n.5127+1G>A | |
| ENST00000645206.1:n.3642G>A | ||
| ENST00000645929.1:c.4290+1G>A | ENSP00000494402.1:n.4290+1G>A | |
| ENST00000646340.1:c.5133+1G>A | ENSP00000496730.1:n.5133+1G>A | |
| ENST00000646647.2:c.5127+1G>A MANE Select | ENSP00000495240.1:n.5127+1G>A | |
| ENST00000399982.6:c.5127+1G>A | ENSP00000382863.2:n.5127+1G>A | |
| ENST00000430710.7:c.4290+1G>A | ENSP00000406288.3:n.4290+1G>A | |
| ENST00000555962.5:n.1081+1G>A | ||
| ENST00000557364.5:c.5127+1G>A | ENSP00000451601.1:n.5127+1G>A | |
| NM_001170629.1:c.5127+1G>A | NP_001164100.1:n.5127+1G>A | |
| NM_020920.3:c.4290+1G>A | NP_065971.2:n.4290+1G>A | |
| NM_001170629.2:c.5127+1G>A MANE Select | NP_001164100.1:n.5127+1G>A | |
| NM_020920.4:c.4290+1G>A | NP_065971.2:n.4290+1G>A |