Linked Data
ClinVar Variation Id:
1585774
ClinVar RCV Id:
RCV002095654
dbSNP Id:
rs528382572
gnomAD v2:
19-7625525-T-G
gnomAD v3:
19-7560639-T-G
gnomAD v4:
19-7560639-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7560639T>G , CM000681.2:g.7560639T>G | GRCh38 |
| NC_000019.9:g.7625525T>G , CM000681.1:g.7625525T>G | GRCh37 |
| NC_000019.8:g.7531525T>G | NCBI36 |
| NG_013374.1:g.31488T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3700-9T>G MANE Select | ENSP00000473211.1:n.3700-9T>G | |
| ENST00000221249.10:c.3586-9T>G | ENSP00000221249.5:n.3586-9T>G | |
| ENST00000414982.7:c.3730-9T>G | ENSP00000407509.2:n.3730-9T>G | |
| ENST00000450331.7:c.3586-9T>G | ENSP00000394348.2:n.3586-9T>G | |
| ENST00000545201.6:c.3505-9T>G | ENSP00000443323.1:n.3505-9T>G | |
| ENST00000597202.1:n.49T>G | ||
| ENST00000599947.1:c.186-375T>G | ||
| ENST00000600737.5:c.3700-9T>G | ENSP00000473211.1:n.3700-9T>G | |
| NM_001166111.1:c.3730-9T>G | NP_001159583.1:n.3730-9T>G | |
| NM_001166112.1:c.3505-9T>G | NP_001159584.1:n.3505-9T>G | |
| NM_001166113.1:c.3586-9T>G | NP_001159585.1:n.3586-9T>G | |
| NM_001166114.1:c.3700-9T>G | NP_001159586.1:n.3700-9T>G | |
| NM_006702.4:c.3586-9T>G | NP_006693.3:n.3586-9T>G | |
| NM_001166111.2:c.3730-9T>G | NP_001159583.1:n.3730-9T>G | |
| NM_001166114.2:c.3700-9T>G MANE Select | NP_001159586.1:n.3700-9T>G | |
| NM_006702.5:c.3586-9T>G | NP_006693.3:n.3586-9T>G | |
| NM_001166112.2:c.3505-9T>G | NP_001159584.1:n.3505-9T>G |