Linked Data
ClinVar Variation Id:
18201
ClinVar RCV Id:
RCV000019848
dbSNP Id:
rs76483862
PubMed:
PMID:2564675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73416280G>A , CM000666.2:g.73416280G>A | GRCh38 |
| NC_000004.11:g.74281997G>A , CM000666.1:g.74281997G>A | GRCh37 |
| NC_000004.10:g.74500861G>A | NCBI36 |
| NG_009291.1:g.17026G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1216G>A MANE Select | ENSP00000295897.4:p.Glu406Lys | |
| ENST00000295897.8:c.1216G>A | ENSP00000295897.4:p.Glu406Lys | |
| ENST00000401494.7:c.871G>A | ENSP00000384695.3:p.Glu291Lys | |
| ENST00000415165.6:c.640G>A | ENSP00000401820.2:p.Glu214Lys | |
| ENST00000476441.6:c.*495G>A | ENSP00000423727.1:n.*495G>A | |
| ENST00000484992.1:n.536G>A | ||
| ENST00000503124.5:c.766G>A | ENSP00000421027.1:p.Glu256Lys | |
| ENST00000505649.5:n.902G>A | ||
| ENST00000509063.5:c.1216G>A | ENSP00000422784.1:p.Glu406Lys | |
| ENST00000511370.1:c.749G>A | ||
| ENST00000621085.4:c.577G>A | ENSP00000483421.1:p.Glu193Lys | |
| ENST00000621628.4:c.577G>A | ENSP00000480485.1:p.Glu193Lys | |
| NM_000477.5:c.1216G>A | NP_000468.1:p.Glu406Lys | |
| NM_000477.6:c.1216G>A | NP_000468.1:p.Glu406Lys | |
| NM_000477.7:c.1216G>A MANE Select | NP_000468.1:p.Glu406Lys |