Linked Data
ClinVar Variation Id:
18206
ClinVar RCV Id:
RCV000019859
dbSNP Id:
rs75709682
gnomAD v2:
4-74285336-G-A
PubMed:
PMID:2404284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73419619G>A , CM000666.2:g.73419619G>A | GRCh38 |
| NC_000004.11:g.74285336G>A , CM000666.1:g.74285336G>A | GRCh37 |
| NC_000004.10:g.74504200G>A | NCBI36 |
| NG_009291.1:g.20365G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1765G>A MANE Select | ENSP00000295897.4:p.Glu589Lys | |
| ENST00000295897.8:c.1765G>A | ENSP00000295897.4:p.Glu589Lys | |
| ENST00000401494.7:c.1420G>A | ENSP00000384695.3:p.Glu474Lys | |
| ENST00000415165.6:c.1189G>A | ENSP00000401820.2:p.Glu397Lys | |
| ENST00000476441.6:c.*1044G>A | ENSP00000423727.1:n.*1044G>A | |
| ENST00000495173.1:n.73G>A | ||
| ENST00000503124.5:c.1315G>A | ENSP00000421027.1:p.Glu439Lys | |
| ENST00000505649.5:n.1312G>A | ||
| ENST00000508932.5:n.175+164G>A | ||
| ENST00000509063.5:c.1765G>A | ENSP00000422784.1:p.Glu589Lys | |
| ENST00000511370.1:c.1298G>A | ||
| ENST00000621085.4:c.1126G>A | ENSP00000483421.1:p.Glu376Lys | |
| ENST00000621628.4:c.1126G>A | ENSP00000480485.1:p.Glu376Lys | |
| NM_000477.5:c.1765G>A | NP_000468.1:p.Glu589Lys | |
| NM_000477.6:c.1765G>A | NP_000468.1:p.Glu589Lys | |
| NM_000477.7:c.1765G>A MANE Select | NP_000468.1:p.Glu589Lys |