Linked Data
ClinVar Variation Id:
2572691
ClinVar RCV Id:
RCV003314805
dbSNP Id:
rs1465543768
gnomAD v2:
15-85383733-G-A
gnomAD v4:
15-84840502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840502G>A , CM000677.2:g.84840502G>A | GRCh38 |
| NC_000015.9:g.85383733G>A , CM000677.1:g.85383733G>A | GRCh37 |
| NC_000015.8:g.83184737G>A | NCBI36 |
| NG_054748.1:g.28872G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1223G>A MANE Select | ENSP00000258888.6:p.Gly408Asp | |
| ENST00000258888.5:c.1829G>A | ENSP00000258888.5:p.Gly610Asp | |
| NM_020778.4:c.1829G>A | NP_065829.3:p.Gly610Asp | |
| NM_020778.5:c.1223G>A MANE Select | NP_065829.4:p.Gly408Asp |