Linked Data
ClinVar Variation Id:
2689055
ClinVar RCV Id:
RCV003490769
dbSNP Id:
rs773288488
gnomAD v3:
15-48503818-T-A
gnomAD v4:
15-48503818-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48503818T>A , CM000677.2:g.48503818T>A | GRCh38 |
| NC_000015.9:g.48796015T>A , CM000677.1:g.48796015T>A | GRCh37 |
| NC_000015.8:g.46583307T>A | NCBI36 |
| NG_008805.2:g.146971A>T , LRG_778:g.146971A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2082A>T | ENSP00000453958.2:p.Glu694Asp | |
| ENST00000674301.2:c.2082A>T | ENSP00000501333.2:p.Glu694Asp | |
| ENST00000684448.1:n.756A>T | ||
| ENST00000316623.10:c.2082A>T MANE Select | ENSP00000325527.5:p.Glu694Asp | |
| ENST00000316623.9:c.2082A>T | ENSP00000325527.5:p.Glu694Asp | |
| ENST00000537463.6:c.637-29168A>T | ENSP00000440294.2:n.637-29168A>T | |
| NM_000138.4:c.2082A>T , LRG_778t1:c.2082A>T | NP_000129.3:p.Glu694Asp | |
| NM_000138.5:c.2082A>T MANE Select | NP_000129.3:p.Glu694Asp |