Linked Data
ClinVar Variation Id:
94003
dbSNP Id:
rs398123669
gnomAD v2:
1-100715325-C-A
gnomAD v4:
1-100249769-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100249769C>A , CM000663.2:g.100249769C>A | GRCh38 |
| NC_000001.10:g.100715325C>A , CM000663.1:g.100715325C>A | GRCh37 |
| NC_000001.9:g.100487913C>A | NCBI36 |
| NG_011852.2:g.5085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.51+1G>T | ENSP00000505544.1:n.51+1G>T | |
| ENST00000681780.1:c.-680+1G>T | ENSP00000505780.1:n.-680+1G>T | |
| ENST00000370131.3:c.51+1G>T | ENSP00000359150.3:n.51+1G>T | |
| ENST00000370132.8:c.51+1G>T MANE Select | ENSP00000359151.3:n.51+1G>T | |
| NM_001918.3:c.51+1G>T | NP_001909.3:n.51+1G>T | |
| XM_005270545.2:c.-680+1G>T | XP_005270602.1:n.-680+1G>T | |
| XR_946560.1:n.71+1G>T | ||
| XM_005270545.4:c.-680+1G>T | XP_005270602.1:n.-680+1G>T | |
| XM_017000468.2:c.-740+1G>T | XP_016855957.1:n.-740+1G>T | |
| XR_946560.3:n.68+1G>T | ||
| NM_001918.4:c.51+1G>T | NP_001909.3:n.51+1G>T | |
| NM_001918.5:c.51+1G>T MANE Select | NP_001909.4:n.51+1G>T | |
| NM_001399969.1:c.-680+1G>T | NP_001386898.1:n.-680+1G>T | |
| NM_001399972.1:c.-553+1G>T | NP_001386901.1:n.-553+1G>T | |
| NR_174363.1:n.65+1G>T | ||
| NR_174364.1:n.65+1G>T | ||
| NR_174365.1:n.65+1G>T | ||
| NR_174366.1:n.65+1G>T |