Linked Data
dbSNP Id:
rs1257264130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740646dup , CM000666.2:g.67740646dup | GRCh38 |
| NC_000004.11:g.68606364dup , CM000666.1:g.68606364dup | GRCh37 |
| NC_000004.10:g.68288959dup | NCBI36 |
| NG_009293.1:g.20441dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.821dup MANE Select | ENSP00000226413.5:p.Ser275PhefsTer19 | |
| ENST00000226413.4:c.821dup | ENSP00000226413.4:p.Ser275PhefsTer19 | |
| ENST00000420975.2:c.693dup | ENSP00000397561.2:p.Phe232LeufsTer13 | |
| NM_000406.2:c.821dup | NP_000397.1:p.Ser275PhefsTer19 | |
| NM_001012763.1:c.693dup | NP_001012781.1:p.Phe232LeufsTer13 | |
| NM_000406.3:c.821dup MANE Select | NP_000397.1:p.Ser275PhefsTer19 | |
| NM_001012763.2:c.693dup | NP_001012781.1:p.Phe232LeufsTer13 |