Linked Data
ClinVar Variation Id:
224016
ClinVar RCV Id:
RCV000209726
dbSNP Id:
rs75913646
gnomAD v2:
18-48560132-C-T
gnomAD v3:
18-51033762-C-T
gnomAD v4:
18-51033762-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51033762C>T , CM000680.2:g.51033762C>T | GRCh38 |
| NC_000018.9:g.48560132C>T , CM000680.1:g.48560132C>T | GRCh37 |
| NC_000018.8:g.46814130C>T | NCBI36 |
| NG_013013.2:g.70723C>T , LRG_318:g.70723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.-128+5097C>T | ENSP00000465878.2:n.-128+5097C>T | |
| ENST00000589076.6:c.-128+3486C>T | ENSP00000466934.2:n.-128+3486C>T | |
| ENST00000589941.2:c.-293+3139C>T | ENSP00000465874.2:n.-293+3139C>T | |
| ENST00000590061.2:c.-60+3486C>T | ENSP00000464772.2:n.-60+3486C>T | |
| ENST00000593223.2:c.-128+3139C>T | ENSP00000466118.2:n.-128+3139C>T | |
| ENST00000342988.8:c.-128+3139C>T MANE Select | ENSP00000341551.3:n.-128+3139C>T | |
| ENST00000342988.7:c.-128+3139C>T | ENSP00000341551.3:n.-128+3139C>T | |
| ENST00000398417.6:c.-128+4018C>T | ENSP00000381452.1:n.-128+4018C>T | |
| ENST00000588256.1:n.335-13158C>T | ||
| ENST00000588860.5:c.-128+5097C>T | ENSP00000465878.1:n.-128+5097C>T | |
| ENST00000589076.5:c.-128+3486C>T | ENSP00000466934.1:n.-128+3486C>T | |
| ENST00000590061.1:c.-60+3486C>T | ENSP00000464772.1:n.-60+3486C>T | |
| ENST00000590722.2:c.158-13158C>T | ENSP00000465737.1:n.158-13158C>T | |
| ENST00000591914.5:c.-128+3139C>T | ENSP00000466941.1:n.-128+3139C>T | |
| ENST00000592911.5:n.27+3139C>T | ||
| NM_005359.5:c.-128+3139C>T , LRG_318t1:c.-128+3139C>T | NP_005350.1:n.-128+3139C>T | |
| NM_005359.6:c.-128+3139C>T MANE Select | NP_005350.1:n.-128+3139C>T |