Linked Data
ClinVar Variation Id:
1123707
ClinVar RCV Id:
RCV001454849
dbSNP Id:
rs987473076
gnomAD v3:
X-53405370-G-A
gnomAD v4:
X-53405370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405370G>A , CM000685.2:g.53405370G>A | GRCh38 |
| NC_000023.10:g.53432302G>A , CM000685.1:g.53432302G>A | GRCh37 |
| NC_000023.9:g.53449027G>A | NCBI36 |
| NG_006988.2:g.22301C>T , LRG_773:g.22301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1933C>T MANE Select | ENSP00000323421.3:p.Leu645= | |
| ENST00000674590.1:c.1165C>T | ENSP00000502626.1:p.Leu389= | |
| ENST00000675065.1:n.1285C>T | ||
| ENST00000675504.1:c.1867C>T | ENSP00000502524.1:p.Leu623= | |
| ENST00000322213.8:c.1933C>T | ENSP00000323421.3:p.Leu645= | |
| ENST00000375340.10:c.1867C>T | ENSP00000364489.7:p.Leu623= | |
| NM_001281463.1:c.1867C>T , LRG_773t1:c.1867C>T | NP_001268392.1:p.Leu623= | |
| NM_006306.3:c.1933C>T , LRG_773t2:c.1933C>T | NP_006297.2:p.Leu645= | |
| NM_006306.4:c.1933C>T MANE Select | NP_006297.2:p.Leu645= |