Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63606378G>C , CM000679.2:g.63606378G>C | GRCh38 |
| NC_000017.10:g.61683738G>C , CM000679.1:g.61683738G>C | GRCh37 |
| NC_000017.9:g.59037470G>C | NCBI36 |
| NG_016979.1:g.10508G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682060.1:n.215G>C | ||
| ENST00000684587.1:c.450G>C | ENSP00000507435.1:p.Glu150Asp | |
| ENST00000690765.1:c.*279G>C | ENSP00000510085.1:n.*279G>C | |
| ENST00000258975.7:c.453G>C MANE Select | ENSP00000258975.6:p.Glu151Asp | |
| ENST00000258975.6:c.453G>C | ENSP00000258975.6:p.Glu151Asp | |
| ENST00000581120.1:n.655G>C | ||
| NM_016360.3:c.453G>C | NP_057444.2:p.Glu151Asp | |
| NM_016360.4:c.453G>C MANE Select | NP_057444.2:p.Glu151Asp |