Linked Data
ClinVar Variation Id:
426775
dbSNP Id:
rs1085307792
gnomAD v2:
3-15520483-C-T
gnomAD v4:
3-15478976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15478976C>T , CM000665.2:g.15478976C>T | GRCh38 |
| NC_000003.11:g.15520483C>T , CM000665.1:g.15520483C>T | GRCh37 |
| NC_000003.10:g.15495487C>T | NCBI36 |
| NG_009032.1:g.47776G>A | |
| NG_009032.2:g.47776G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383788.10:c.393+1G>A MANE Select | ENSP00000373298.3:n.393+1G>A | |
| ENST00000679838.1:c.*155+1G>A | ENSP00000505708.1:n.*155+1G>A | |
| ENST00000681097.1:c.393+1G>A | ENSP00000505397.1:n.393+1G>A | |
| ENST00000383781.8:c.363+1G>A | ENSP00000373291.3:n.363+1G>A | |
| ENST00000383786.9:c.291+1G>A | ENSP00000373296.3:n.291+1G>A | |
| ENST00000383788.9:c.393+1G>A | ENSP00000373298.3:n.393+1G>A | |
| ENST00000603469.1:n.65G>A | ||
| ENST00000603808.5:c.393+1G>A | ENSP00000474271.1:n.393+1G>A | |
| ENST00000605797.1:c.222+1G>A | ENSP00000474936.1:n.222+1G>A | |
| NM_005677.3:c.393+1G>A | NP_005668.2:n.393+1G>A | |
| NM_080538.2:c.363+1G>A | NP_536799.1:n.363+1G>A | |
| NM_080539.3:c.291+1G>A | NP_536800.2:n.291+1G>A | |
| NM_005677.4:c.393+1G>A MANE Select | NP_005668.2:n.393+1G>A | |
| NM_080539.4:c.291+1G>A | NP_536800.2:n.291+1G>A |