Linked Data
gnomAD v4:
10-122462016-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122462016G>A , CM000672.2:g.122462016G>A | GRCh38 |
| NC_000010.10:g.124221532G>A , CM000672.1:g.124221532G>A | GRCh37 |
| NC_000010.9:g.124211522G>A | NCBI36 |
| NG_011554.1:g.5492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.364G>A MANE Select | ENSP00000357980.3:p.Asp122Asn | |
| ENST00000648167.1:c.154+3307G>A | ENSP00000498033.1:n.154+3307G>A | |
| ENST00000368984.7:c.364G>A | ENSP00000357980.3:p.Asp122Asn | |
| NM_002775.4:c.364G>A | NP_002766.1:p.Asp122Asn | |
| NM_002775.5:c.364G>A MANE Select | NP_002766.1:p.Asp122Asn |