Linked Data
ClinVar Variation Id:
2972365
ClinVar RCV Id:
RCV003835491
dbSNP Id:
rs748752114
ExAC:
10:124266399 A / G
gnomAD v2:
10-124266399-A-G
gnomAD v4:
10-122506883-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506883A>G , CM000672.2:g.122506883A>G | GRCh38 |
| NC_000010.10:g.124266399A>G , CM000672.1:g.124266399A>G | GRCh37 |
| NC_000010.9:g.124256389A>G | NCBI36 |
| NG_011554.1:g.50359A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.970A>G MANE Select | ENSP00000357980.3:p.Asn324Asp | |
| ENST00000648167.1:c.652A>G | ENSP00000498033.1:p.Asn218Asp | |
| ENST00000368984.7:c.970A>G | ENSP00000357980.3:p.Asn324Asp | |
| ENST00000420892.1:c.193A>G | ENSP00000412676.1:p.Asn65Asp | |
| NM_002775.4:c.970A>G | NP_002766.1:p.Asn324Asp | |
| NM_002775.5:c.970A>G MANE Select | NP_002766.1:p.Asn324Asp |