Linked Data
ClinVar Variation Id:
38288
ClinVar RCV Id:
RCV000022258
dbSNP Id:
rs111033808
ExAC:
9:34649500 G / A
gnomAD v2:
9-34649500-G-A
gnomAD v3:
9-34649503-G-A
gnomAD v4:
9-34649503-G-A
COSMIC:
COSM6452647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649503G>A , CM000671.2:g.34649503G>A | GRCh38 |
| NC_000009.11:g.34649500G>A , CM000671.1:g.34649500G>A | GRCh37 |
| NC_000009.10:g.34639500G>A | NCBI36 |
| NG_009029.1:g.7866G>A | |
| NG_028966.1:g.2319G>A | |
| NG_009029.2:g.7915G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*586G>A | ENSP00000509954.1:n.*586G>A | |
| ENST00000378842.8:c.998G>A MANE Select | ENSP00000368119.4:p.Arg333Gln | |
| ENST00000378842.7:c.998G>A | ENSP00000368119.3:p.Arg333Gln | |
| ENST00000450095.6:c.671G>A | ENSP00000401956.2:p.Arg224Gln | |
| ENST00000488412.2:n.582G>A | ||
| ENST00000489643.6:n.1406G>A | ||
| ENST00000554550.5:c.*618G>A | ENSP00000451435.1:n.*618G>A | |
| ENST00000554638.5:n.1470G>A | ||
| ENST00000555020.5:n.1787G>A | ||
| ENST00000555754.1:n.446G>A | ||
| ENST00000556278.1:c.432+1047G>A | ENSP00000451792.1:n.432+1047G>A | |
| ENST00000557706.5:n.1573G>A | ||
| NM_000155.3:c.998G>A | NP_000146.2:p.Arg333Gln | |
| NM_001258332.1:c.671G>A | NP_001245261.1:p.Arg224Gln | |
| NM_000155.4:c.998G>A MANE Select | NP_000146.2:p.Arg333Gln | |
| NM_001258332.2:c.671G>A | NP_001245261.1:p.Arg224Gln |