Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528922T>G , CM000681.2:g.7528922T>G | GRCh38 |
| NC_000019.9:g.7593808T>G , CM000681.1:g.7593808T>G | GRCh37 |
| NC_000019.8:g.7499808T>G | NCBI36 |
| NG_015806.1:g.11313T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1086T>G MANE Select | ENSP00000264079.5:p.Asp362Glu | |
| ENST00000264079.10:c.1086T>G | ENSP00000264079.5:p.Asp362Glu | |
| ENST00000394321.9:n.1401T>G | ||
| ENST00000595860.5:n.269T>G | ||
| NM_020533.2:c.1086T>G | NP_065394.1:p.Asp362Glu | |
| NM_020533.3:c.1086T>G MANE Select | NP_065394.1:p.Asp362Glu |