Linked Data
ClinVar Variation Id:
10020
ClinVar RCV Id:
RCV000010703
dbSNP Id:
rs111033620
PubMed:
PMID:8401490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71110617C>T , CM000685.2:g.71110617C>T | GRCh38 |
| NC_000023.10:g.70330467C>T , CM000685.1:g.70330467C>T | GRCh37 |
| NC_000023.9:g.70247192C>T | NCBI36 |
| NG_009088.1:g.5937G>A , LRG_150:g.5937G>A | |
| NG_021141.1:g.1172G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482750.6:c.341G>A | ENSP00000421262.2:p.Gly114Asp | |
| ENST00000696903.1:n.392G>A | ||
| ENST00000374202.7:c.341G>A MANE Select | ENSP00000363318.3:p.Gly114Asp | |
| ENST00000642473.1:n.705G>A | ||
| ENST00000644022.1:n.747G>A | ||
| ENST00000644708.1:n.747G>A | ||
| ENST00000644911.1:n.747G>A | ||
| ENST00000645266.1:c.341G>A | ENSP00000493734.1:p.Gly114Asp | |
| ENST00000645518.1:c.341G>A | ENSP00000493986.1:p.Gly114Asp | |
| ENST00000646106.1:c.341G>A | ENSP00000496437.1:p.Gly114Asp | |
| ENST00000646505.1:c.341G>A | ENSP00000496673.1:p.Gly114Asp | |
| ENST00000647492.1:c.341G>A | ENSP00000495340.1:p.Gly114Asp | |
| ENST00000276110.6:n.726G>A | ||
| ENST00000374188.7:c.-376G>A | ENSP00000363303.3:n.-376G>A | |
| ENST00000374202.6:c.341G>A | ENSP00000363318.2:p.Gly114Asp | |
| ENST00000456850.6:c.24+808G>A | ENSP00000388967.2:n.24+808G>A | |
| ENST00000464642.5:c.209G>A | ENSP00000425233.1:p.Gly70Asp | |
| ENST00000473378.1:c.278G>A | ENSP00000423601.1:p.Gly93Asp | |
| ENST00000487883.1:c.305G>A | ENSP00000423966.1:p.Gly102Asp | |
| ENST00000512747.3:n.408G>A | ||
| NM_000206.2:c.341G>A , LRG_150t1:c.341G>A | NP_000197.1:p.Gly114Asp | |
| NM_000206.3:c.341G>A MANE Select | NP_000197.1:p.Gly114Asp |