Linked Data
ClinVar Variation Id:
330537
ClinVar RCV Id:
RCV000342031
dbSNP Id:
rs202070445
ExAC:
19:7625965 C / G
gnomAD v2:
19-7625965-C-G
gnomAD v3:
19-7561079-C-G
gnomAD v4:
19-7561079-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7561079C>G , CM000681.2:g.7561079C>G | GRCh38 |
| NC_000019.9:g.7625965C>G , CM000681.1:g.7625965C>G | GRCh37 |
| NC_000019.8:g.7531965C>G | NCBI36 |
| NG_013374.1:g.31928C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3882C>G MANE Select | ENSP00000473211.1:p.Pro1294= | |
| ENST00000221249.10:c.3768C>G | ENSP00000221249.5:p.Pro1256= | |
| ENST00000414982.7:c.3912C>G | ENSP00000407509.2:p.Pro1304= | |
| ENST00000450331.7:c.3768C>G | ENSP00000394348.2:p.Pro1256= | |
| ENST00000545201.6:c.3687C>G | ENSP00000443323.1:p.Pro1229= | |
| ENST00000597202.1:n.240C>G | ||
| ENST00000599947.1:c.251C>G | ||
| ENST00000600737.5:c.3882C>G | ENSP00000473211.1:p.Pro1294= | |
| NM_001166111.1:c.3912C>G | NP_001159583.1:p.Pro1304= | |
| NM_001166112.1:c.3687C>G | NP_001159584.1:p.Pro1229= | |
| NM_001166113.1:c.3768C>G | NP_001159585.1:p.Pro1256= | |
| NM_001166114.1:c.3882C>G | NP_001159586.1:p.Pro1294= | |
| NM_006702.4:c.3768C>G | NP_006693.3:p.Pro1256= | |
| NM_001166111.2:c.3912C>G | NP_001159583.1:p.Pro1304= | |
| NM_001166114.2:c.3882C>G MANE Select | NP_001159586.1:p.Pro1294= | |
| NM_006702.5:c.3768C>G | NP_006693.3:p.Pro1256= | |
| NM_001166112.2:c.3687C>G | NP_001159584.1:p.Pro1229= |