Linked Data
ClinVar Variation Id:
18237
ClinVar RCV Id:
RCV000019898
dbSNP Id:
rs74826639
COSMIC:
COSM734722
PubMed:
PMID:7902134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418244G>A , CM000666.2:g.73418244G>A | GRCh38 |
| NC_000004.11:g.74283961G>A , CM000666.1:g.74283961G>A | GRCh37 |
| NC_000004.10:g.74502825G>A | NCBI36 |
| NG_009291.1:g.18990G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1585G>A MANE Select | ENSP00000295897.4:p.Glu529Lys | |
| ENST00000295897.8:c.1585G>A | ENSP00000295897.4:p.Glu529Lys | |
| ENST00000401494.7:c.1240G>A | ENSP00000384695.3:p.Glu414Lys | |
| ENST00000415165.6:c.1009G>A | ENSP00000401820.2:p.Glu337Lys | |
| ENST00000476441.6:c.*864G>A | ENSP00000423727.1:p.= | |
| ENST00000486939.1:n.239G>A | ||
| ENST00000503124.5:c.1135G>A | ENSP00000421027.1:p.Glu379Lys | |
| ENST00000505649.5:n.1132G>A | ||
| ENST00000509063.5:c.1585G>A | ENSP00000422784.1:p.Glu529Lys | |
| ENST00000511370.1:n.1118G>A | ||
| ENST00000621085.4:c.946G>A | ENSP00000483421.1:p.Glu316Lys | |
| ENST00000621628.4:c.946G>A | ENSP00000480485.1:p.Glu316Lys | |
| NM_000477.5:c.1585G>A | NP_000468.1:p.Glu529Lys | |
| NM_000477.6:c.1585G>A | NP_000468.1:p.Glu529Lys | |
| NM_000477.7:c.1585G>A MANE Select | NP_000468.1:p.Glu529Lys |