Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740723T>A , CM000666.2:g.67740723T>A | GRCh38 |
| NC_000004.11:g.68606441T>A , CM000666.1:g.68606441T>A | GRCh37 |
| NC_000004.10:g.68289036T>A | NCBI36 |
| NG_009293.1:g.20364A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.744A>T MANE Select | ENSP00000226413.5:p.Glu248Asp | |
| ENST00000226413.4:c.744A>T | ENSP00000226413.4:p.Glu248Asp | |
| ENST00000420975.2:c.616A>T | ENSP00000397561.2:p.Thr206Ser | |
| NM_000406.2:c.744A>T | NP_000397.1:p.Glu248Asp | |
| NM_001012763.1:c.616A>T | NP_001012781.1:p.Thr206Ser | |
| NM_000406.3:c.744A>T MANE Select | NP_000397.1:p.Glu248Asp | |
| NM_001012763.2:c.616A>T | NP_001012781.1:p.Thr206Ser |