Linked Data
ClinVar Variation Id:
284430
ClinVar RCV Id:
RCV000293203
dbSNP Id:
rs886042864
gnomAD v3:
15-40471287-C-A
gnomAD v4:
15-40471287-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471287C>A , CM000677.2:g.40471287C>A | GRCh38 |
| NC_000015.9:g.40763486C>A , CM000677.1:g.40763486C>A | GRCh37 |
| NC_000015.8:g.38550778C>A | NCBI36 |
| NG_017074.1:g.5327C>A , LRG_600:g.5327C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306243.7:c.74C>A MANE Select | ENSP00000307297.6:p.Ala25Asp | |
| ENST00000306243.6:c.74C>A | ENSP00000307297.5:p.Ala25Asp | |
| ENST00000559991.1:c.74C>A | ENSP00000453882.1:p.Ala25Asp | |
| NM_130468.3:c.74C>A , LRG_600t1:c.74C>A | NP_569735.1:p.Ala25Asp | |
| NM_130468.4:c.74C>A MANE Select | NP_569735.1:p.Ala25Asp |