Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736221T>A , CM000685.2:g.153736221T>A | GRCh38 |
| NC_000023.10:g.153001675T>A , CM000685.1:g.153001675T>A | GRCh37 |
| NC_000023.9:g.152654869T>A | NCBI36 |
| NG_009022.2:g.16354T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1191T>A MANE Select | ENSP00000218104.3:p.Asp397Glu | |
| ENST00000218104.5:c.1191T>A | ENSP00000218104.3:p.Asp397Glu | |
| ENST00000443684.2:n.194T>A | ||
| NM_000033.3:c.1191T>A | NP_000024.2:p.Asp397Glu | |
| XR_938507.1:n.1607T>A | ||
| XR_938507.2:n.1607T>A | ||
| NM_000033.4:c.1191T>A MANE Select | NP_000024.2:p.Asp397Glu |