Linked Data
ClinVar Variation Id:
1029034
ClinVar RCV Id:
RCV001330229
dbSNP Id:
rs2075687773
gnomAD v3:
X-53405486-T-C
gnomAD v4:
X-53405486-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405486T>C , CM000685.2:g.53405486T>C | GRCh38 |
| NC_000023.10:g.53432418T>C , CM000685.1:g.53432418T>C | GRCh37 |
| NC_000023.9:g.53449143T>C | NCBI36 |
| NG_006988.2:g.22185A>G , LRG_773:g.22185A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1911+7A>G MANE Select | ENSP00000323421.3:n.1911+7A>G | |
| ENST00000674590.1:c.1143+7A>G | ENSP00000502626.1:n.1143+7A>G | |
| ENST00000675065.1:n.1263+7A>G | ||
| ENST00000675504.1:c.1845+7A>G | ENSP00000502524.1:n.1845+7A>G | |
| ENST00000322213.8:c.1911+7A>G | ENSP00000323421.3:n.1911+7A>G | |
| ENST00000375340.10:c.1845+7A>G | ENSP00000364489.7:n.1845+7A>G | |
| NM_001281463.1:c.1845+7A>G , LRG_773t1:c.1845+7A>G | NP_001268392.1:n.1845+7A>G | |
| NM_006306.3:c.1911+7A>G , LRG_773t2:c.1911+7A>G | NP_006297.2:n.1911+7A>G | |
| NM_006306.4:c.1911+7A>G MANE Select | NP_006297.2:n.1911+7A>G |