Linked Data
ClinVar Variation Id:
1199323
dbSNP Id:
rs771221019
ExAC:
X:70327635 T / C
gnomAD v2:
X-70327635-T-C
gnomAD v3:
X-71107785-T-C
gnomAD v4:
X-71107785-T-C
ERepo:
CA10443761/MONDO:0010315/129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71107785T>C , CM000685.2:g.71107785T>C | GRCh38 |
| NC_000023.10:g.70327635T>C , CM000685.1:g.70327635T>C | GRCh37 |
| NC_000023.9:g.70244360T>C | NCBI36 |
| NG_009088.1:g.8769A>G , LRG_150:g.8769A>G | |
| NG_021141.1:g.4004A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.*181A>G | ENSP00000421262.2:n.*181A>G | |
| ENST00000696903.1:n.1364A>G | ||
| ENST00000374202.7:c.1061A>G MANE Select | ENSP00000363318.3:p.His354Arg | |
| ENST00000642473.1:n.1288+492A>G | ||
| ENST00000644022.1:n.1190+492A>G | ||
| ENST00000644708.1:n.1302+68A>G | ||
| ENST00000644911.1:n.1399+68A>G | ||
| ENST00000645266.1:c.924+492A>G | ENSP00000493734.1:n.924+492A>G | |
| ENST00000645518.1:c.924+492A>G | ENSP00000493986.1:n.924+492A>G | |
| ENST00000646106.1:c.993+68A>G | ENSP00000496437.1:n.993+68A>G | |
| ENST00000646505.1:c.924+492A>G | ENSP00000496673.1:n.924+492A>G | |
| ENST00000647492.1:c.924+492A>G | ENSP00000495340.1:n.924+492A>G | |
| ENST00000276110.6:n.1654A>G | ||
| ENST00000374188.7:c.248A>G | ENSP00000363303.3:p.His83Arg | |
| ENST00000374202.6:c.1061A>G | ENSP00000363318.2:p.His354Arg | |
| ENST00000456850.6:c.491A>G | ENSP00000388967.2:p.His164Arg | |
| ENST00000482750.5:c.377A>G | ||
| ENST00000512747.3:n.1595A>G | ||
| NM_000206.2:c.1061A>G , LRG_150t1:c.1061A>G | NP_000197.1:p.His354Arg | |
| NM_000206.3:c.1061A>G MANE Select | NP_000197.1:p.His354Arg |