Linked Data
dbSNP Id:
rs1801395487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132447del , CM000669.2:g.147132447del | GRCh38 |
| NC_000007.13:g.146829539del , CM000669.1:g.146829539del | GRCh37 |
| NC_000007.12:g.146460472del | NCBI36 |
| NG_007092.2:g.1021087del | |
| NG_007092.3:g.1021447del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1286del MANE Select | ENSP00000354778.3:p.Ser429ThrfsTer14 | |
| ENST00000636561.1:n.1189del | ||
| ENST00000636870.1:n.1148del | ||
| ENST00000637150.1:n.1215del | ||
| ENST00000637694.1:n.1189del | ||
| ENST00000637825.1:n.769del | ||
| ENST00000638117.1:n.1189del | ||
| ENST00000361727.7:c.1286del | ENSP00000354778.3:p.Ser429ThrfsTer14 | |
| NM_014141.5:c.1286del | NP_054860.1:p.Ser429ThrfsTer14 | |
| XM_017011950.2:c.1286del | XP_016867439.1:p.Ser429ThrfsTer14 | |
| NM_014141.6:c.1286del MANE Select | NP_054860.1:p.Ser429ThrfsTer14 |