Linked Data
ClinVar Variation Id:
2854500
ClinVar RCV Id:
RCV003688688
dbSNP Id:
rs2145567484
gnomAD v3:
17-56594710-G-A
gnomAD v4:
17-56594710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594710G>A , CM000679.2:g.56594710G>A | GRCh38 |
| NC_000017.10:g.54672071G>A , CM000679.1:g.54672071G>A | GRCh37 |
| NC_000017.9:g.52027070G>A | NCBI36 |
| NG_011958.1:g.6012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.487G>A MANE Select | ENSP00000328181.4:p.Asp163Asn | |
| ENST00000332822.4:c.487G>A | ENSP00000328181.4:p.Asp163Asn | |
| NM_005450.4:c.487G>A | NP_005441.1:p.Asp163Asn | |
| NM_005450.6:c.487G>A MANE Select | NP_005441.1:p.Asp163Asn |