Linked Data
ClinVar Variation Id:
906988
ClinVar RCV Id:
RCV001156501
dbSNP Id:
rs17854155
ExAC:
4:74280857 A / G
gnomAD v2:
4-74280857-A-G
gnomAD v4:
4-73415140-A-G
COSMIC:
COSM2831125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415140A>G , CM000666.2:g.73415140A>G | GRCh38 |
| NC_000004.11:g.74280857A>G , CM000666.1:g.74280857A>G | GRCh37 |
| NC_000004.10:g.74499721A>G | NCBI36 |
| NG_009291.1:g.15886A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1164A>G MANE Select | ENSP00000295897.4:p.Ala388= | |
| ENST00000295897.8:c.1164A>G | ENSP00000295897.4:p.Ala388= | |
| ENST00000401494.7:c.819A>G | ENSP00000384695.3:p.Ala273= | |
| ENST00000415165.6:c.588A>G | ENSP00000401820.2:p.Ala196= | |
| ENST00000476441.6:c.*443A>G | ENSP00000423727.1:n.*443A>G | |
| ENST00000484992.1:n.484A>G | ||
| ENST00000503124.5:c.714A>G | ENSP00000421027.1:p.Ala238= | |
| ENST00000504043.1:n.167A>G | ||
| ENST00000505649.5:n.850A>G | ||
| ENST00000509063.5:c.1164A>G | ENSP00000422784.1:p.Ala388= | |
| ENST00000511370.1:c.697A>G | ||
| ENST00000621085.4:c.525A>G | ENSP00000483421.1:p.Ala175= | |
| ENST00000621628.4:c.525A>G | ENSP00000480485.1:p.Ala175= | |
| NM_000477.5:c.1164A>G | NP_000468.1:p.Ala388= | |
| NM_000477.6:c.1164A>G | NP_000468.1:p.Ala388= | |
| NM_000477.7:c.1164A>G MANE Select | NP_000468.1:p.Ala388= |