Linked Data
ClinVar Variation Id:
14985
ClinVar RCV Id:
RCV000016125
dbSNP Id:
rs281864891
PubMed:
PMID:8718700
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254661T>A , CM000673.2:g.5254661T>A | GRCh38 |
| NC_000011.9:g.5275891T>A , CM000673.1:g.5275891T>A | GRCh37 |
| NC_000011.8:g.5232467T>A | NCBI36 |
| NG_000007.3:g.42955A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.68A>T MANE Select | ENSP00000338082.4:p.Asp23Val | |
| ENST00000380252.6:c.-73-147A>T | ENSP00000369602.2:n.-73-147A>T | |
| ENST00000380259.7:c.1614A>T | ENSP00000369609.3:n.1614A>T | |
| ENST00000642908.1:c.68A>T | ENSP00000495346.1:p.Asp23Val | |
| ENST00000647543.1:c.68A>T | ENSP00000496470.1:p.Asp23Val | |
| ENST00000336906.4:c.68A>T | ENSP00000338082.4:p.Asp23Val | |
| ENST00000380252.5:c.63-147A>T | ENSP00000369602.1:n.63-147A>T | |
| ENST00000380259.6:c.68A>T | ENSP00000369609.2:p.Asp23Val | |
| ENST00000444587.1:c.54+14A>T | ENSP00000488218.1:n.54+14A>T | |
| ENST00000620888.4:c.68A>T | ENSP00000479637.1:p.Asp23Val | |
| ENST00000624109.1:c.290T>A | ENSP00000485458.1:p.Ile97Asn | |
| NM_000184.2:c.68A>T | NP_000175.1:p.Asp23Val | |
| NM_000184.3:c.68A>T MANE Select | NP_000175.1:p.Asp23Val |