Linked Data
ClinVar Variation Id:
10026
ClinVar RCV Id:
RCV000010709
dbSNP Id:
rs111033617
gnomAD v2:
X-70328449-C-T
gnomAD v4:
X-71108599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71108599C>T , CM000685.2:g.71108599C>T | GRCh38 |
| NC_000023.10:g.70328449C>T , CM000685.1:g.70328449C>T | GRCh37 |
| NC_000023.9:g.70245174C>T | NCBI36 |
| NG_009088.1:g.7955G>A , LRG_150:g.7955G>A | |
| NG_021141.1:g.3190G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482750.6:c.758-253G>A | ENSP00000421262.2:n.758-253G>A | |
| ENST00000696903.1:n.905G>A | ||
| ENST00000374202.7:c.854G>A MANE Select | ENSP00000363318.3:p.Arg285Gln | |
| ENST00000642473.1:n.1218G>A | ||
| ENST00000644022.1:n.1120G>A | ||
| ENST00000644708.1:n.1164-253G>A | ||
| ENST00000644911.1:n.1260G>A | ||
| ENST00000645266.1:c.854G>A | ENSP00000493734.1:p.Arg285Gln | |
| ENST00000645518.1:c.854G>A | ENSP00000493986.1:p.Arg285Gln | |
| ENST00000646106.1:c.854G>A | ENSP00000496437.1:p.Arg285Gln | |
| ENST00000646505.1:c.854G>A | ENSP00000496673.1:p.Arg285Gln | |
| ENST00000647492.1:c.854G>A | ENSP00000495340.1:p.Arg285Gln | |
| ENST00000276110.6:n.1447G>A | ||
| ENST00000374188.7:c.42-253G>A | ENSP00000363303.3:n.42-253G>A | |
| ENST00000374202.6:c.854G>A | ENSP00000363318.2:p.Arg285Gln | |
| ENST00000456850.6:c.284G>A | ENSP00000388967.2:p.Arg95Gln | |
| ENST00000482750.5:c.171-253G>A | ||
| ENST00000512747.3:n.781G>A | ||
| NM_000206.2:c.854G>A , LRG_150t1:c.854G>A | NP_000197.1:p.Arg285Gln | |
| NM_000206.3:c.854G>A MANE Select | NP_000197.1:p.Arg285Gln |