Linked Data
ClinVar Variation Id:
2968384
ClinVar RCV Id:
RCV003821510
dbSNP Id:
rs1298292169
gnomAD v3:
1-44978295-G-A
gnomAD v4:
1-44978295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44978295G>A , CM000663.2:g.44978295G>A | GRCh38 |
| NC_000001.10:g.45443967G>A , CM000663.1:g.45443967G>A | GRCh37 |
| NC_000001.9:g.45216554G>A | NCBI36 |
| NG_015864.1:g.13395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.294+20C>T MANE Select | ENSP00000353575.2:n.294+20C>T | |
| ENST00000360403.6:c.294+20C>T | ENSP00000353575.2:n.294+20C>T | |
| ENST00000372182.6:n.407+20C>T | ||
| ENST00000372183.7:c.294+20C>T | ENSP00000361257.3:n.294+20C>T | |
| ENST00000477953.5:n.397+20C>T | ||
| ENST00000480675.5:c.294+20C>T | ENSP00000485842.1:n.294+20C>T | |
| ENST00000487532.5:n.406+20C>T | ||
| ENST00000497010.1:n.406+20C>T | ||
| ENST00000620860.4:c.294+20C>T | ENSP00000483996.1:n.294+20C>T | |
| NM_001166588.2:c.294+20C>T | NP_001160060.1:n.294+20C>T | |
| NM_001261418.1:c.294+20C>T | NP_001248347.1:n.294+20C>T | |
| NM_020365.4:c.294+20C>T | NP_065098.1:n.294+20C>T | |
| XM_011542396.1:c.294+20C>T | XP_011540698.1:n.294+20C>T | |
| XM_017002745.2:c.294+20C>T | XP_016858234.1:n.294+20C>T | |
| XM_017002746.1:c.-161+20C>T | XP_016858235.1:n.-161+20C>T | |
| XM_017002747.1:c.-161+20C>T | XP_016858236.1:n.-161+20C>T | |
| NM_020365.5:c.294+20C>T MANE Select | NP_065098.1:n.294+20C>T | |
| NM_001166588.3:c.294+20C>T | NP_001160060.1:n.294+20C>T | |
| NM_001261418.2:c.294+20C>T | NP_001248347.1:n.294+20C>T |