Linked Data
ClinVar Variation Id:
990923
ClinVar RCV Id:
RCV001279042
dbSNP Id:
rs2054179057
gnomAD v4:
15-71811473-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811473T>A , CM000677.2:g.71811473T>A | GRCh38 |
| NC_000015.9:g.72103813T>A , CM000677.1:g.72103813T>A | GRCh37 |
| NC_000015.8:g.69890867T>A | NCBI36 |
| NG_009113.2:g.5919T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.119-10T>A MANE Select | ENSP00000482504.1:n.119-10T>A | |
| ENST00000617575.4:c.119-10T>A | ENSP00000482504.1:n.119-10T>A | |
| ENST00000621098.1:c.119-10T>A | ENSP00000479962.1:n.119-10T>A | |
| ENST00000621736.4:c.-146-10T>A | ENSP00000479254.1:n.-146-10T>A | |
| NM_014249.3:c.119-10T>A | NP_055064.1:n.119-10T>A | |
| NM_016346.3:c.119-10T>A | NP_057430.1:n.119-10T>A | |
| XM_011521146.1:c.-146-10T>A | XP_011519448.1:n.-146-10T>A | |
| NM_014249.4:c.119-10T>A MANE Select | NP_055064.1:n.119-10T>A | |
| NM_016346.4:c.119-10T>A | NP_057430.1:n.119-10T>A |