Linked Data
ClinVar Variation Id:
18212
ClinVar RCV Id:
RCV000019871
dbSNP Id:
rs77645174
ExAC:
4:74285249 A / G
gnomAD v2:
4-74285249-A-G
gnomAD v4:
4-73419532-A-G
PubMed:
PMID:2247440
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73419532A>G , CM000666.2:g.73419532A>G | GRCh38 |
| NC_000004.11:g.74285249A>G , CM000666.1:g.74285249A>G | GRCh37 |
| NC_000004.10:g.74504113A>G | NCBI36 |
| NG_009291.1:g.20278A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1678A>G MANE Select | ENSP00000295897.4:p.Lys560Glu | |
| ENST00000295897.8:c.1678A>G | ENSP00000295897.4:p.Lys560Glu | |
| ENST00000401494.7:c.1333A>G | ENSP00000384695.3:p.Lys445Glu | |
| ENST00000415165.6:c.1102A>G | ENSP00000401820.2:p.Lys368Glu | |
| ENST00000476441.6:c.*957A>G | ENSP00000423727.1:n.*957A>G | |
| ENST00000486939.1:n.332A>G | ||
| ENST00000503124.5:c.1228A>G | ENSP00000421027.1:p.Lys410Glu | |
| ENST00000505649.5:n.1225A>G | ||
| ENST00000508932.5:n.175+77A>G | ||
| ENST00000509063.5:c.1678A>G | ENSP00000422784.1:p.Lys560Glu | |
| ENST00000511370.1:c.1211A>G | ||
| ENST00000621085.4:c.1039A>G | ENSP00000483421.1:p.Lys347Glu | |
| ENST00000621628.4:c.1039A>G | ENSP00000480485.1:p.Lys347Glu | |
| NM_000477.5:c.1678A>G | NP_000468.1:p.Lys560Glu | |
| NM_000477.6:c.1678A>G | NP_000468.1:p.Lys560Glu | |
| NM_000477.7:c.1678A>G MANE Select | NP_000468.1:p.Lys560Glu |