Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595162G>T , CM000680.2:g.31595162G>T | GRCh38 |
| NC_000018.9:g.29175125G>T , CM000680.1:g.29175125G>T | GRCh37 |
| NC_000018.8:g.27429123G>T | NCBI36 |
| NG_009490.1:g.8396G>T , LRG_416:g.8396G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.243G>T MANE Select | ENSP00000237014.4:p.Glu81Asp | |
| ENST00000610404.5:c.147G>T | ENSP00000477599.2:p.Glu49Asp | |
| ENST00000649620.1:c.243G>T | ENSP00000497927.1:p.Glu81Asp | |
| ENST00000237014.7:c.243G>T | ENSP00000237014.3:p.Glu81Asp | |
| ENST00000541025.2:n.269G>T | ||
| ENST00000610404.4:c.243G>T | ENSP00000477599.1:p.Glu81Asp | |
| ENST00000613781.1:c.243G>T | ENSP00000479174.1:p.Glu81Asp | |
| NM_000371.3:c.243G>T , LRG_416t1:c.243G>T | NP_000362.1:p.Glu81Asp | |
| NM_000371.4:c.243G>T MANE Select | NP_000362.1:p.Glu81Asp |