Linked Data
ClinVar Variation Id:
2115433
ClinVar RCV Id:
RCV003046455
dbSNP Id:
rs1368119738
gnomAD v3:
X-53405596-G-A
gnomAD v4:
X-53405596-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405596G>A , CM000685.2:g.53405596G>A | GRCh38 |
| NC_000023.10:g.53432528G>A , CM000685.1:g.53432528G>A | GRCh37 |
| NC_000023.9:g.53449253G>A | NCBI36 |
| NG_006988.2:g.22075C>T , LRG_773:g.22075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1808C>T MANE Select | ENSP00000323421.3:p.Pro603Leu | |
| ENST00000674590.1:c.1040C>T | ENSP00000502626.1:p.Pro347Leu | |
| ENST00000675065.1:n.1160C>T | ||
| ENST00000675504.1:c.1742C>T | ENSP00000502524.1:p.Pro581Leu | |
| ENST00000322213.8:c.1808C>T | ENSP00000323421.3:p.Pro603Leu | |
| ENST00000375340.10:c.1742C>T | ENSP00000364489.7:p.Pro581Leu | |
| NM_001281463.1:c.1742C>T , LRG_773t1:c.1742C>T | NP_001268392.1:p.Pro581Leu | |
| NM_006306.3:c.1808C>T , LRG_773t2:c.1808C>T | NP_006297.2:p.Pro603Leu | |
| NM_006306.4:c.1808C>T MANE Select | NP_006297.2:p.Pro603Leu |