Linked Data
ClinVar Variation Id:
139638
ClinVar RCV Id:
RCV000128579
dbSNP Id:
rs587777527
gnomAD v4:
13-27254247-G-A
COSMIC:
COSM3417499
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27254247G>A , CM000675.2:g.27254247G>A | GRCh38 |
| NC_000013.10:g.27828384G>A , CM000675.1:g.27828384G>A | GRCh37 |
| NC_000013.9:g.26726384G>A | NCBI36 |
| NG_046927.1:g.7693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311549.11:c.95G>A MANE Select | ENSP00000346027.4:p.Arg32Gln | |
| ENST00000272274.8:c.95G>A | ENSP00000351021.2:p.Arg32Gln | |
| ENST00000311549.10:c.95G>A | ENSP00000346027.4:p.Arg32Gln | |
| ENST00000319826.8:c.95G>A | ENSP00000370574.1:p.Arg32Gln | |
| ENST00000326092.8:c.95G>A | ENSP00000370569.1:p.Arg32Gln | |
| ENST00000461690.5:c.95G>A | ENSP00000434298.1:p.Arg32Gln | |
| ENST00000466550.1:n.107G>A | ||
| ENST00000473558.5:n.331G>A | ||
| ENST00000483765.5:c.67+404G>A | ENSP00000473246.1:n.67+404G>A | |
| ENST00000493317.1:c.95G>A | ENSP00000471695.1:p.Arg32Gln | |
| NM_000982.3:c.95G>A | NP_000973.2:p.Arg32Gln | |
| NM_000982.4:c.95G>A MANE Select | NP_000973.2:p.Arg32Gln |