Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948792C>A , CM000679.2:g.16948792C>A | GRCh38 |
| NC_000017.10:g.16852106C>A , CM000679.1:g.16852106C>A | GRCh37 |
| NC_000017.9:g.16792831C>A | NCBI36 |
| NG_007281.1:g.28297G>T , LRG_120:g.28297G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.391G>T MANE Select | ENSP00000261652.2:p.Asp131Tyr | |
| ENST00000261652.6:c.391G>T | ENSP00000261652.2:p.Asp131Tyr | |
| ENST00000579315.5:c.391G>T | ENSP00000464069.1:p.Asp131Tyr | |
| ENST00000581616.2:n.394G>T | ||
| ENST00000582931.5:n.295G>T | ||
| ENST00000583789.1:c.253G>T | ENSP00000462952.1:p.Asp85Tyr | |
| ENST00000584950.5:c.253G>T | ENSP00000463582.1:p.Asp85Tyr | |
| NM_012452.2:c.391G>T , LRG_120t1:c.391G>T | NP_036584.1:p.Asp131Tyr | |
| NM_012452.3:c.391G>T MANE Select | NP_036584.1:p.Asp131Tyr |