Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33850974T>A , CM000682.2:g.33850974T>A | GRCh38 |
| NC_000020.10:g.32438780T>A , CM000682.1:g.32438780T>A | GRCh37 |
| NC_000020.9:g.31902441T>A | NCBI36 |
| NG_015820.1:g.44671T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217402.3:c.391T>A MANE Select | ENSP00000217402.2:p.Leu131Ile | |
| ENST00000217402.2:c.391T>A | ENSP00000217402.2:p.Leu131Ile | |
| NM_176812.4:c.391T>A | NP_789782.1:p.Leu131Ile | |
| NM_176812.5:c.391T>A MANE Select | NP_789782.1:p.Leu131Ile |