Linked Data
ClinVar Variation Id:
378045
ClinVar RCV Id:
RCV000426615
dbSNP Id:
rs1057520299
gnomAD v3:
X-64976325-C-T
gnomAD v4:
X-64976325-C-T
PubMed:
PMID:26056227
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64976325C>T , CM000685.2:g.64976325C>T | GRCh38 |
| NC_000023.10:g.64196205C>T , CM000685.1:g.64196205C>T | GRCh37 |
| NC_000023.9:g.64112930C>T | NCBI36 |
| NG_021200.1:g.5209G>A | |
| NG_021200.2:g.63420G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000476032.2:c.-272G>A | ENSP00000515193.1:n.-272G>A | |
| ENST00000492653.6:c.53G>A | ENSP00000515192.1:p.Arg18Lys | |
| ENST00000703133.1:c.53G>A | ENSP00000515188.1:p.Arg18Lys | |
| ENST00000703136.1:c.53G>A | ENSP00000515190.1:p.Arg18Lys | |
| ENST00000374839.8:c.53G>A MANE Select | ENSP00000363972.3:p.Arg18Lys | |
| ENST00000337990.2:c.-271-54082G>A | ENSP00000338650.2:n.-271-54082G>A | |
| ENST00000374839.7:c.53G>A | ENSP00000363972.3:p.Arg18Lys | |
| ENST00000447788.6:c.53G>A | ENSP00000399126.2:p.Arg18Lys | |
| ENST00000476032.1:n.39G>A | ||
| ENST00000488608.5:n.209G>A | ||
| ENST00000488831.5:n.42-54337G>A | ||
| ENST00000492653.5:n.149G>A | ||
| NM_001178032.2:c.-271-54082G>A | NP_001171503.1:n.-271-54082G>A | |
| NM_001178033.2:c.53G>A | NP_001171504.1:p.Arg18Lys | |
| NM_001243804.1:c.-16-54337G>A | NP_001230733.1:n.-16-54337G>A | |
| NM_018684.3:c.53G>A | NP_061154.1:p.Arg18Lys | |
| NR_045044.1:n.209G>A | ||
| NM_018684.4:c.53G>A MANE Select | NP_061154.1:p.Arg18Lys | |
| NM_001178032.3:c.-271-54082G>A | NP_001171503.1:n.-271-54082G>A | |
| NM_001243804.2:c.-16-54337G>A | NP_001230733.1:n.-16-54337G>A | |
| NR_045044.2:n.126G>A | ||
| NM_001178033.3:c.53G>A | NP_001171504.1:p.Arg18Lys |