Linked Data
ClinVar Variation Id:
18234
ClinVar RCV Id:
RCV000019895
dbSNP Id:
rs77354753
gnomAD v4:
4-73415045-G-A
PubMed:
PMID:1347703
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415045G>A , CM000666.2:g.73415045G>A | GRCh38 |
| NC_000004.11:g.74280762G>A , CM000666.1:g.74280762G>A | GRCh37 |
| NC_000004.10:g.74499626G>A | NCBI36 |
| NG_009291.1:g.15791G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1069G>A MANE Select | ENSP00000295897.4:p.Glu357Lys | |
| ENST00000295897.8:c.1069G>A | ENSP00000295897.4:p.Glu357Lys | |
| ENST00000401494.7:c.724G>A | ENSP00000384695.3:p.Glu242Lys | |
| ENST00000415165.6:c.493G>A | ENSP00000401820.2:p.Glu165Lys | |
| ENST00000476441.6:c.*348G>A | ENSP00000423727.1:n.*348G>A | |
| ENST00000484992.1:n.389G>A | ||
| ENST00000503124.5:c.619G>A | ENSP00000421027.1:p.Glu207Lys | |
| ENST00000504043.1:n.72G>A | ||
| ENST00000505649.5:n.755G>A | ||
| ENST00000509063.5:c.1069G>A | ENSP00000422784.1:p.Glu357Lys | |
| ENST00000511370.1:c.602G>A | ||
| ENST00000621085.4:c.491-61G>A | ENSP00000483421.1:n.491-61G>A | |
| ENST00000621628.4:c.487-57G>A | ENSP00000480485.1:n.487-57G>A | |
| NM_000477.5:c.1069G>A | NP_000468.1:p.Glu357Lys | |
| NM_000477.6:c.1069G>A | NP_000468.1:p.Glu357Lys | |
| NM_000477.7:c.1069G>A MANE Select | NP_000468.1:p.Glu357Lys |