Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52792289C>A , CM000674.2:g.52792289C>A | GRCh38 |
| NC_000012.11:g.53186073C>A , CM000674.1:g.53186073C>A | GRCh37 |
| NC_000012.10:g.51472340C>A | NCBI36 |
| NG_008350.1:g.8820G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417996.2:c.1138G>T MANE Select | ENSP00000413479.2:p.Asp380Tyr | |
| NM_057088.2:c.1138G>T | NP_476429.2:p.Asp380Tyr | |
| XM_011538324.1:c.778G>T | XP_011536626.1:p.Asp260Tyr | |
| XM_024448975.1:c.1402G>T | XP_024304743.1:p.Asp468Tyr | |
| NM_057088.3:c.1138G>T MANE Select | NP_476429.2:p.Asp380Tyr |