Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740610A>T , CM000666.2:g.67740610A>T | GRCh38 |
| NC_000004.11:g.68606328A>T , CM000666.1:g.68606328A>T | GRCh37 |
| NC_000004.10:g.68288923A>T | NCBI36 |
| NG_009293.1:g.20477T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.857T>A MANE Select | ENSP00000226413.5:p.Leu286Gln | |
| ENST00000226413.4:c.857T>A | ENSP00000226413.4:p.Leu286Gln | |
| ENST00000420975.2:c.729T>A | ENSP00000397561.2:p.Pro243= | |
| NM_000406.2:c.857T>A | NP_000397.1:p.Leu286Gln | |
| NM_001012763.1:c.729T>A | NP_001012781.1:p.Pro243= | |
| NM_000406.3:c.857T>A MANE Select | NP_000397.1:p.Leu286Gln | |
| NM_001012763.2:c.729T>A | NP_001012781.1:p.Pro243= |