Linked Data
ClinVar Variation Id:
14975
ClinVar RCV Id:
RCV000016115
dbSNP Id:
rs35654328
PubMed:
PMID:2442122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254650C>T , CM000673.2:g.5254650C>T | GRCh38 |
| NC_000011.9:g.5275880C>T , CM000673.1:g.5275880C>T | GRCh37 |
| NC_000011.8:g.5232456C>T | NCBI36 |
| NG_000007.3:g.42966G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.79G>A MANE Select | ENSP00000338082.4:p.Glu27Lys | |
| ENST00000380252.6:c.-73-136G>A | ENSP00000369602.2:n.-73-136G>A | |
| ENST00000380259.7:c.1625G>A | ENSP00000369609.3:n.1625G>A | |
| ENST00000642908.1:c.79G>A | ENSP00000495346.1:p.Glu27Lys | |
| ENST00000647543.1:c.79G>A | ENSP00000496470.1:p.Glu27Lys | |
| ENST00000336906.4:c.79G>A | ENSP00000338082.4:p.Glu27Lys | |
| ENST00000380252.5:c.63-136G>A | ENSP00000369602.1:n.63-136G>A | |
| ENST00000380259.6:c.79G>A | ENSP00000369609.2:p.Glu27Lys | |
| ENST00000444587.1:c.54+25G>A | ENSP00000488218.1:n.54+25G>A | |
| ENST00000620888.4:c.79G>A | ENSP00000479637.1:p.Glu27Lys | |
| ENST00000624109.1:c.279C>T | ENSP00000485458.1:p.Phe93= | |
| NM_000184.2:c.79G>A | NP_000175.1:p.Glu27Lys | |
| NM_000184.3:c.79G>A MANE Select | NP_000175.1:p.Glu27Lys |