Linked Data
ClinVar Variation Id:
1100932
ClinVar RCV Id:
RCV001423675
dbSNP Id:
rs1576319604
gnomAD v4:
3-120675785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120675785C>T , CM000665.2:g.120675785C>T | GRCh38 |
| NC_000003.11:g.120394632C>T , CM000665.1:g.120394632C>T | GRCh37 |
| NC_000003.10:g.121877322C>T | NCBI36 |
| NG_011957.1:g.11697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.87+7G>A MANE Select | ENSP00000283871.5:n.87+7G>A | |
| ENST00000283871.9:c.87+7G>A | ENSP00000283871.5:n.87+7G>A | |
| ENST00000466528.5:n.113+7G>A | ||
| ENST00000476082.2:c.53+7G>A | ENSP00000419560.2:n.53+7G>A | |
| ENST00000480862.1:n.245+7G>A | ||
| ENST00000485313.5:n.195+7G>A | ||
| ENST00000488183.5:n.345+7G>A | ||
| NM_000187.3:c.87+7G>A | NP_000178.2:n.87+7G>A | |
| XM_005247412.1:c.87+7G>A | XP_005247469.1:n.87+7G>A | |
| XM_005247413.1:c.87+7G>A | XP_005247470.1:n.87+7G>A | |
| XM_005247414.3:c.87+7G>A | XP_005247471.1:n.87+7G>A | |
| XM_011512746.1:c.87+7G>A | XP_011511048.1:n.87+7G>A | |
| XM_005247412.2:c.87+7G>A | XP_005247469.1:n.87+7G>A | |
| XM_005247413.2:c.87+7G>A | XP_005247470.1:n.87+7G>A | |
| XM_005247414.5:c.87+7G>A | XP_005247471.1:n.87+7G>A | |
| XM_011512746.2:c.87+7G>A | XP_011511048.1:n.87+7G>A | |
| XM_017006277.2:c.-337+7G>A | XP_016861766.1:n.-337+7G>A | |
| NM_000187.4:c.87+7G>A MANE Select | NP_000178.2:n.87+7G>A |