Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168492783T>A , CM000667.2:g.168492783T>A | GRCh38 |
| NC_000005.9:g.167919788T>A , CM000667.1:g.167919788T>A | GRCh37 |
| NC_000005.8:g.167852366T>A | NCBI36 |
| NG_041809.1:g.11326T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231572.8:c.305T>A MANE Select | ENSP00000231572.3:p.Val102Glu | |
| ENST00000231572.7:c.305T>A | ENSP00000231572.3:p.Val102Glu | |
| ENST00000519346.1:n.170T>A | ||
| ENST00000520013.5:c.305T>A | ENSP00000429030.1:p.Val102Glu | |
| ENST00000521329.5:c.*246T>A | ENSP00000428494.1:n.*246T>A | |
| ENST00000521939.5:n.318T>A | ||
| ENST00000522834.5:c.305T>A | ENSP00000430035.1:p.Val102Glu | |
| ENST00000524082.5:n.353T>A | ||
| NM_002887.3:c.305T>A | NP_002878.2:p.Val102Glu | |
| NM_002887.4:c.305T>A MANE Select | NP_002878.2:p.Val102Glu |