Linked Data
ClinVar Variation Id:
18198
ClinVar RCV Id:
RCV000019844
dbSNP Id:
rs78166690
gnomAD v3:
4-73415162-A-G
gnomAD v4:
4-73415162-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415162A>G , CM000666.2:g.73415162A>G | GRCh38 |
| NC_000004.11:g.74280879A>G , CM000666.1:g.74280879A>G | GRCh37 |
| NC_000004.10:g.74499743A>G | NCBI36 |
| NG_009291.1:g.15908A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1186A>G MANE Select | ENSP00000295897.4:p.Lys396Glu | |
| ENST00000295897.8:c.1186A>G | ENSP00000295897.4:p.Lys396Glu | |
| ENST00000401494.7:c.841A>G | ENSP00000384695.3:p.Lys281Glu | |
| ENST00000415165.6:c.610A>G | ENSP00000401820.2:p.Lys204Glu | |
| ENST00000476441.6:c.*465A>G | ENSP00000423727.1:n.*465A>G | |
| ENST00000484992.1:n.506A>G | ||
| ENST00000503124.5:c.736A>G | ENSP00000421027.1:p.Lys246Glu | |
| ENST00000504043.1:n.189A>G | ||
| ENST00000505649.5:n.872A>G | ||
| ENST00000509063.5:c.1186A>G | ENSP00000422784.1:p.Lys396Glu | |
| ENST00000511370.1:c.719A>G | ||
| ENST00000621085.4:c.547A>G | ENSP00000483421.1:p.Lys183Glu | |
| ENST00000621628.4:c.547A>G | ENSP00000480485.1:p.Lys183Glu | |
| NM_000477.5:c.1186A>G | NP_000468.1:p.Lys396Glu | |
| NM_000477.6:c.1186A>G | NP_000468.1:p.Lys396Glu | |
| NM_000477.7:c.1186A>G MANE Select | NP_000468.1:p.Lys396Glu |