Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186880G>A , CM000669.2:g.98186880G>A | GRCh38 |
| NC_000007.13:g.97816192G>A , CM000669.1:g.97816192G>A | GRCh37 |
| NC_000007.12:g.97654128G>A | NCBI36 |
| NG_013375.1:g.84996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.880G>A MANE Select | ENSP00000297293.5:p.Asp294Asn | |
| ENST00000297293.5:c.880G>A | ENSP00000297293.5:p.Asp294Asn | |
| NM_014916.3:c.880G>A | NP_055731.2:p.Asp294Asn | |
| XM_011515981.1:c.874G>A | XP_011514283.1:p.Asp292Asn | |
| XM_011515981.3:c.874G>A | XP_011514283.1:p.Asp292Asn | |
| NM_014916.4:c.880G>A MANE Select | NP_055731.2:p.Asp294Asn |