Linked Data
ClinVar Variation Id:
97704
ClinVar RCV Id:
RCV000083957
dbSNP Id:
rs104895287
gnomAD v2:
12-6442532-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333366C>T , CM000674.2:g.6333366C>T | GRCh38 |
| NC_000012.11:g.6442532C>T , CM000674.1:g.6442532C>T | GRCh37 |
| NC_000012.10:g.6312793C>T | NCBI36 |
| NG_007506.1:g.13730G>A , LRG_193:g.13730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.506+1G>A | ||
| ENST00000437813.8:c.472+1G>A | ENSP00000513672.1:n.472+1G>A | |
| ENST00000440083.7:c.473G>A | ENSP00000413224.3:p.Cys158Tyr | |
| ENST00000535958.2:c.*299+1G>A | ENSP00000513673.1:n.*299+1G>A | |
| ENST00000698339.1:c.472+1G>A | ENSP00000513670.1:n.472+1G>A | |
| ENST00000698340.1:c.472+1G>A | ENSP00000513671.1:n.472+1G>A | |
| ENST00000162749.7:c.472+1G>A MANE Select | ENSP00000162749.2:n.472+1G>A | |
| ENST00000162749.6:c.472+1G>A | ENSP00000162749.2:n.472+1G>A | |
| ENST00000366159.8:c.472+1G>A | ENSP00000380389.3:n.472+1G>A | |
| ENST00000437813.7:n.433+1G>A | ||
| ENST00000440083.6:c.473G>A | ENSP00000413224.2:p.Cys158Tyr | |
| ENST00000534885.5:c.318+1G>A | ENSP00000441803.1:n.318+1G>A | |
| ENST00000537842.5:n.76+1G>A | ||
| ENST00000539372.5:c.472+1G>A | ENSP00000442059.1:n.472+1G>A | |
| ENST00000540022.5:c.343+1G>A | ENSP00000438343.1:n.343+1G>A | |
| ENST00000543048.5:c.*83+1G>A | ENSP00000439981.1:n.*83+1G>A | |
| ENST00000543995.5:c.*59+1G>A | ENSP00000442405.1:n.*59+1G>A | |
| NM_001065.3:c.472+1G>A , LRG_193t1:c.472+1G>A | NP_001056.1:n.472+1G>A | |
| NM_001346091.1:c.148+1G>A | NP_001333020.1:n.148+1G>A | |
| NM_001346092.1:c.-106+1G>A | NP_001333021.1:n.-106+1G>A | |
| NR_144351.1:n.775+1G>A | ||
| NM_001065.4:c.472+1G>A MANE Select | NP_001056.1:n.472+1G>A | |
| NM_001346091.2:c.148+1G>A | NP_001333020.1:n.148+1G>A | |
| NM_001346092.2:c.-106+1G>A | NP_001333021.1:n.-106+1G>A | |
| NR_144351.2:n.734+1G>A |