Linked Data
dbSNP Id:
rs780011424
ExAC:
15:85383759 G / A
gnomAD v2:
15-85383759-G-A
gnomAD v4:
15-84840528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840528G>A , CM000677.2:g.84840528G>A | GRCh38 |
| NC_000015.9:g.85383759G>A , CM000677.1:g.85383759G>A | GRCh37 |
| NC_000015.8:g.83184763G>A | NCBI36 |
| NG_054748.1:g.28898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1249G>A MANE Select | ENSP00000258888.6:p.Asp417Asn | |
| ENST00000258888.5:c.1855G>A | ENSP00000258888.5:p.Asp619Asn | |
| NM_020778.4:c.1855G>A | NP_065829.3:p.Asp619Asn | |
| NM_020778.5:c.1249G>A MANE Select | NP_065829.4:p.Asp417Asn |