Linked Data
ClinVar Variation Id:
2783705
ClinVar RCV Id:
RCV003659918
dbSNP Id:
rs1432105347
gnomAD v2:
15-85383823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840592G>A , CM000677.2:g.84840592G>A | GRCh38 |
| NC_000015.9:g.85383823G>A , CM000677.1:g.85383823G>A | GRCh37 |
| NC_000015.8:g.83184827G>A | NCBI36 |
| NG_054748.1:g.28962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1313G>A MANE Select | ENSP00000258888.6:p.Ser438Asn | |
| ENST00000258888.5:c.1919G>A | ENSP00000258888.5:p.Ser640Asn | |
| NM_020778.4:c.1919G>A | NP_065829.3:p.Ser640Asn | |
| NM_020778.5:c.1313G>A MANE Select | NP_065829.4:p.Ser438Asn |