Linked Data
ClinVar Variation Id:
1480384
ClinVar RCV Id:
RCV002022055
dbSNP Id:
rs1965747369
gnomAD v3:
16-28986228-C-G
gnomAD v4:
16-28986228-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28986228C>G , CM000678.2:g.28986228C>G | GRCh38 |
| NC_000016.9:g.28997549C>G , CM000678.1:g.28997549C>G | GRCh37 |
| NC_000016.8:g.28905050C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697038.1:n.498+12C>G | ||
| ENST00000354453.7:n.597+12C>G | ||
| ENST00000395456.7:c.245+12C>G MANE Select | ENSP00000378841.3:n.245+12C>G | |
| ENST00000360872.9:c.245+12C>G | ENSP00000354119.5:n.245+12C>G | |
| ENST00000395456.6:c.245+12C>G | ENSP00000378841.2:n.245+12C>G | |
| ENST00000395461.7:c.353+12C>G | ENSP00000378845.3:n.353+12C>G | |
| ENST00000454369.6:c.245+12C>G | ENSP00000398793.2:n.245+12C>G | |
| ENST00000562472.5:n.611C>G | ||
| ENST00000562701.5:c.245+12C>G | ENSP00000454793.1:n.245+12C>G | |
| ENST00000563964.5:n.516-157C>G | ||
| ENST00000564277.5:c.245+12C>G | ENSP00000457036.1:n.245+12C>G | |
| ENST00000566177.5:c.245+12C>G | ENSP00000456761.1:n.245+12C>G | |
| ENST00000566270.5:n.872C>G | ||
| ENST00000568440.1:n.130C>G | ||
| ENST00000568899.5:n.129+12C>G | ||
| ENST00000570232.2:c.5+12C>G | ENSP00000455728.1:n.5+12C>G | |
| ENST00000630764.2:c.245+12C>G | ENSP00000488120.1:n.245+12C>G | |
| NM_001014987.1:c.245+12C>G | NP_001014987.1:n.245+12C>G | |
| NM_001014988.1:c.245+12C>G | NP_001014988.1:n.245+12C>G | |
| NM_001014989.1:c.353+12C>G | NP_001014989.2:n.353+12C>G | |
| NM_014387.3:c.245+12C>G | NP_055202.1:n.245+12C>G | |
| NM_001014987.2:c.245+12C>G MANE Select | NP_001014987.1:n.245+12C>G | |
| NM_001014988.2:c.245+12C>G | NP_001014988.1:n.245+12C>G | |
| NM_001014989.2:c.353+12C>G | NP_001014989.2:n.353+12C>G | |
| NM_014387.4:c.245+12C>G | NP_055202.1:n.245+12C>G |