Linked Data
ClinVar Variation Id:
14783
dbSNP Id:
rs121912459
ExAC:
21:33039620 G / A
gnomAD v2:
21-33039620-G-A
gnomAD v4:
21-31667307-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667307G>A , CM000683.2:g.31667307G>A | GRCh38 |
| NC_000021.8:g.33039620G>A , CM000683.1:g.33039620G>A | GRCh37 |
| NC_000021.7:g.31961491G>A | NCBI36 |
| NG_008689.1:g.12686G>A , LRG_652:g.12686G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270142.11:c.289G>A MANE Select | ENSP00000270142.7:p.Asp97Asn | |
| ENST00000270142.10:c.289G>A | ENSP00000270142.6:p.Asp97Asn | |
| ENST00000389995.4:c.232G>A | ENSP00000374645.4:p.Asp78Asn | |
| ENST00000470944.1:n.1217G>A | ||
| ENST00000476106.5:n.552G>A | ||
| NM_000454.4:c.289G>A , LRG_652t1:c.289G>A | NP_000445.1:p.Asp97Asn | |
| NM_000454.5:c.289G>A MANE Select | NP_000445.1:p.Asp97Asn |