Linked Data
ClinVar Variation Id:
1704529
dbSNP Id:
rs376449340
ExAC:
10:124266387 G / A
gnomAD v2:
10-124266387-G-A
gnomAD v3:
10-122506871-G-A
gnomAD v4:
10-122506871-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506871G>A , CM000672.2:g.122506871G>A | GRCh38 |
| NC_000010.10:g.124266387G>A , CM000672.1:g.124266387G>A | GRCh37 |
| NC_000010.9:g.124256377G>A | NCBI36 |
| NG_011554.1:g.50347G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.958G>A MANE Select | ENSP00000357980.3:p.Asp320Asn | |
| ENST00000648167.1:c.640G>A | ENSP00000498033.1:p.Asp214Asn | |
| ENST00000368984.7:c.958G>A | ENSP00000357980.3:p.Asp320Asn | |
| ENST00000420892.1:c.181G>A | ENSP00000412676.1:p.Asp61Asn | |
| NM_002775.4:c.958G>A | NP_002766.1:p.Asp320Asn | |
| NM_002775.5:c.958G>A MANE Select | NP_002766.1:p.Asp320Asn |