Linked Data
ClinVar Variation Id:
2203217
ClinVar RCV Id:
RCV002651569
dbSNP Id:
rs567107508
ExAC:
15:48703280 T / A
gnomAD v2:
15-48703280-T-A
gnomAD v3:
15-48411083-T-A
gnomAD v4:
15-48411083-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411083T>A , CM000677.2:g.48411083T>A | GRCh38 |
| NC_000015.9:g.48703280T>A , CM000677.1:g.48703280T>A | GRCh37 |
| NC_000015.8:g.46490572T>A | NCBI36 |
| NG_008805.2:g.239706A>T , LRG_778:g.239706A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1331A>T | ENSP00000453958.2:n.*1331A>T | |
| ENST00000682158.1:n.1904A>T | ||
| ENST00000682170.1:n.2704A>T | ||
| ENST00000682767.1:n.1820A>T | ||
| ENST00000316623.10:c.8523A>T MANE Select | ENSP00000325527.5:p.Glu2841Asp | |
| ENST00000316623.9:c.8523A>T | ENSP00000325527.5:p.Glu2841Asp | |
| ENST00000559133.5:c.3892A>T | ||
| NM_000138.4:c.8523A>T , LRG_778t1:c.8523A>T | NP_000129.3:p.Glu2841Asp | |
| NM_000138.5:c.8523A>T MANE Select | NP_000129.3:p.Glu2841Asp |