Linked Data
ClinVar Variation Id:
1603558
ClinVar RCV Id:
RCV002147018
dbSNP Id:
rs782223677
ExAC:
X:53436128 A / G
gnomAD v2:
X-53436128-A-G
gnomAD v3:
X-53409197-A-G
gnomAD v4:
X-53409197-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53409197A>G , CM000685.2:g.53409197A>G | GRCh38 |
| NC_000023.10:g.53436128A>G , CM000685.1:g.53436128A>G | GRCh37 |
| NC_000023.9:g.53452853A>G | NCBI36 |
| NG_006988.2:g.18474T>C , LRG_773:g.18474T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1410T>C MANE Select | ENSP00000323421.3:p.Ile470= | |
| ENST00000674590.1:c.642T>C | ENSP00000502626.1:p.Ile214= | |
| ENST00000675065.1:n.762T>C | ||
| ENST00000675504.1:c.1344T>C | ENSP00000502524.1:p.Ile448= | |
| ENST00000322213.8:c.1410T>C | ENSP00000323421.3:p.Ile470= | |
| ENST00000375340.10:c.1344T>C | ENSP00000364489.7:p.Ile448= | |
| NM_001281463.1:c.1344T>C , LRG_773t1:c.1344T>C | NP_001268392.1:p.Ile448= | |
| NM_006306.3:c.1410T>C , LRG_773t2:c.1410T>C | NP_006297.2:p.Ile470= | |
| NM_006306.4:c.1410T>C MANE Select | NP_006297.2:p.Ile470= |