Linked Data
ClinVar Variation Id:
1204188
dbSNP Id:
rs199516840
ExAC:
X:64196239 T / C
gnomAD v2:
X-64196239-T-C
gnomAD v3:
X-64976359-T-C
gnomAD v4:
X-64976359-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64976359T>C , CM000685.2:g.64976359T>C | GRCh38 |
| NC_000023.10:g.64196239T>C , CM000685.1:g.64196239T>C | GRCh37 |
| NC_000023.9:g.64112964T>C | NCBI36 |
| NG_021200.1:g.5175A>G | |
| NG_021200.2:g.63386A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476032.2:c.-306A>G | ENSP00000515193.1:n.-306A>G | |
| ENST00000492653.6:c.19A>G | ENSP00000515192.1:p.Ile7Val | |
| ENST00000703133.1:c.19A>G | ENSP00000515188.1:p.Ile7Val | |
| ENST00000703136.1:c.19A>G | ENSP00000515190.1:p.Ile7Val | |
| ENST00000374839.8:c.19A>G MANE Select | ENSP00000363972.3:p.Ile7Val | |
| ENST00000337990.2:c.-271-54116A>G | ENSP00000338650.2:n.-271-54116A>G | |
| ENST00000374839.7:c.19A>G | ENSP00000363972.3:p.Ile7Val | |
| ENST00000447788.6:c.19A>G | ENSP00000399126.2:p.Ile7Val | |
| ENST00000476032.1:n.5A>G | ||
| ENST00000488608.5:n.175A>G | ||
| ENST00000488831.5:n.42-54371A>G | ||
| ENST00000492653.5:n.115A>G | ||
| NM_001178032.2:c.-271-54116A>G | NP_001171503.1:n.-271-54116A>G | |
| NM_001178033.2:c.19A>G | NP_001171504.1:p.Ile7Val | |
| NM_001243804.1:c.-16-54371A>G | NP_001230733.1:n.-16-54371A>G | |
| NM_018684.3:c.19A>G | NP_061154.1:p.Ile7Val | |
| NR_045044.1:n.175A>G | ||
| NM_018684.4:c.19A>G MANE Select | NP_061154.1:p.Ile7Val | |
| NM_001178032.3:c.-271-54116A>G | NP_001171503.1:n.-271-54116A>G | |
| NM_001243804.2:c.-16-54371A>G | NP_001230733.1:n.-16-54371A>G | |
| NR_045044.2:n.92A>G | ||
| NM_001178033.3:c.19A>G | NP_001171504.1:p.Ile7Val |