Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71994494G>A , CM000674.2:g.71994494G>A | GRCh38 |
| NC_000012.11:g.72388274G>A , CM000674.1:g.72388274G>A | GRCh37 |
| NC_000012.10:g.70674541G>A | NCBI36 |
| NG_008279.1:g.60649G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.997G>A MANE Select | ENSP00000329093.3:p.Ala333Thr | |
| ENST00000333850.3:c.997G>A | ENSP00000329093.3:p.Ala333Thr | |
| NM_173353.3:c.997G>A | NP_775489.2:p.Ala333Thr | |
| XM_011537899.1:c.403G>A | XP_011536201.1:p.Ala135Thr | |
| NM_173353.4:c.997G>A MANE Select | NP_775489.2:p.Ala333Thr |