Linked Data
ClinVar Variation Id:
353661
ClinVar RCV Id:
RCV000273746
dbSNP Id:
rs886060636
gnomAD v2:
5-41803280-T-C
gnomAD v3:
5-41803178-T-C
gnomAD v4:
5-41803178-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41803178T>C , CM000667.2:g.41803178T>C | GRCh38 |
| NC_000005.9:g.41803280T>C , CM000667.1:g.41803280T>C | GRCh37 |
| NC_000005.8:g.41839037T>C | NCBI36 |
| NG_011823.1:g.72512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.956-15A>G MANE Select | ENSP00000196371.5:n.956-15A>G | |
| ENST00000196371.9:c.956-15A>G | ENSP00000196371.5:n.956-15A>G | |
| ENST00000509987.1:c.398-15A>G | ENSP00000425348.1:n.398-15A>G | |
| ENST00000514723.1:n.144+37273A>G | ||
| NM_000436.3:c.956-15A>G | NP_000427.1:n.956-15A>G | |
| XR_427658.2:n.1132-15A>G | ||
| NM_001364299.1:c.977-15A>G | NP_001351228.1:n.977-15A>G | |
| NM_001364300.1:c.977-15A>G | NP_001351229.1:n.977-15A>G | |
| NM_001364301.1:c.950-15A>G | NP_001351230.1:n.950-15A>G | |
| NM_001364302.1:c.956-15A>G | NP_001351231.1:n.956-15A>G | |
| NM_001364303.1:c.398-15A>G | NP_001351232.1:n.398-15A>G | |
| NR_157114.1:n.1023-15A>G | ||
| XR_001742081.2:n.1133-15A>G | ||
| NM_000436.4:c.956-15A>G MANE Select | NP_000427.1:n.956-15A>G | |
| NM_001364299.2:c.977-15A>G | NP_001351228.1:n.977-15A>G | |
| NM_001364300.2:c.977-15A>G | NP_001351229.1:n.977-15A>G | |
| NM_001364301.2:c.950-15A>G | NP_001351230.1:n.950-15A>G | |
| NM_001364302.2:c.956-15A>G | NP_001351231.1:n.956-15A>G | |
| NR_157114.2:n.1023-15A>G | ||
| NM_001364303.2:c.398-15A>G | NP_001351232.1:n.398-15A>G |