Linked Data
ClinVar Variation Id:
1066245
ClinVar RCV Id:
RCV001377191
dbSNP Id:
rs2152087451
gnomAD v4:
16-68645634-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68645634A>G , CM000678.2:g.68645634A>G | GRCh38 |
| NC_000016.9:g.68679537A>G , CM000678.1:g.68679537A>G | GRCh37 |
| NC_000016.8:g.67237038A>G | NCBI36 |
| NG_009096.1:g.6387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.9:c.46-2A>G MANE Select | ENSP00000264012.4:n.46-2A>G | |
| ENST00000264012.8:c.46-2A>G | ENSP00000264012.4:n.46-2A>G | |
| ENST00000429102.6:c.46-2A>G | ENSP00000398485.2:n.46-2A>G | |
| ENST00000542274.5:c.45+210A>G | ENSP00000464021.1:n.45+210A>G | |
| NM_001793.4:c.46-2A>G | NP_001784.2:n.46-2A>G | |
| XM_011522800.1:c.46-2A>G | XP_011521102.1:n.46-2A>G | |
| NM_001317195.1:c.46-2A>G | NP_001304124.1:n.46-2A>G | |
| NM_001317196.1:c.-6+210A>G | NP_001304125.1:n.-6+210A>G | |
| NM_001793.5:c.46-2A>G | NP_001784.2:n.46-2A>G | |
| XM_011522800.3:c.46-2A>G | XP_011521102.1:n.46-2A>G | |
| NM_001793.6:c.46-2A>G MANE Select | NP_001784.2:n.46-2A>G | |
| NM_001317195.2:c.46-2A>G | NP_001304124.1:n.46-2A>G | |
| NM_001317196.2:c.-6+210A>G | NP_001304125.1:n.-6+210A>G | |
| NM_001317195.3:c.46-2A>G | NP_001304124.1:n.46-2A>G |