Linked Data
ClinVar Variation Id:
1590041
ClinVar RCV Id:
RCV002107314
dbSNP Id:
rs1286099101
gnomAD v2:
19-7601064-C-G
gnomAD v3:
19-7536178-C-G
gnomAD v4:
19-7536178-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7536178C>G , CM000681.2:g.7536178C>G | GRCh38 |
| NC_000019.9:g.7601064C>G , CM000681.1:g.7601064C>G | GRCh37 |
| NC_000019.8:g.7507064C>G | NCBI36 |
| NG_013374.1:g.7027C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.233-13C>G MANE Select | ENSP00000473211.1:n.233-13C>G | |
| ENST00000221249.10:c.116-13C>G | ENSP00000221249.5:n.116-13C>G | |
| ENST00000414982.7:c.260-13C>G | ENSP00000407509.2:n.260-13C>G | |
| ENST00000450331.7:c.116-13C>G | ENSP00000394348.2:n.116-13C>G | |
| ENST00000545201.6:c.116-13C>G | ENSP00000443323.1:n.116-13C>G | |
| ENST00000593924.5:c.116-13C>G | ENSP00000469794.1:n.116-13C>G | |
| ENST00000600737.5:c.233-13C>G | ENSP00000473211.1:n.233-13C>G | |
| ENST00000600942.5:c.116-13C>G | ENSP00000472572.1:n.116-13C>G | |
| ENST00000601001.5:c.116-13C>G | ENSP00000472631.1:n.116-13C>G | |
| ENST00000601668.5:c.116-13C>G | ENSP00000470608.1:n.116-13C>G | |
| ENST00000601870.1:c.620-13C>G | ||
| ENST00000602191.5:n.198C>G | ||
| NM_001166111.1:c.260-13C>G | NP_001159583.1:n.260-13C>G | |
| NM_001166112.1:c.116-13C>G | NP_001159584.1:n.116-13C>G | |
| NM_001166113.1:c.116-13C>G | NP_001159585.1:n.116-13C>G | |
| NM_001166114.1:c.233-13C>G | NP_001159586.1:n.233-13C>G | |
| NM_006702.4:c.116-13C>G | NP_006693.3:n.116-13C>G | |
| NM_001166111.2:c.260-13C>G | NP_001159583.1:n.260-13C>G | |
| NM_001166114.2:c.233-13C>G MANE Select | NP_001159586.1:n.233-13C>G | |
| NM_006702.5:c.116-13C>G | NP_006693.3:n.116-13C>G | |
| NM_001166112.2:c.116-13C>G | NP_001159584.1:n.116-13C>G |