Linked Data
dbSNP Id:
rs34775538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586404dup , CM000679.2:g.41586404dup | GRCh38 |
| NC_000017.10:g.39742656dup , CM000679.1:g.39742656dup | GRCh37 |
| NC_000017.9:g.36996182dup | NCBI36 |
| NG_008624.1:g.5493dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.432dup MANE Select | ENSP00000167586.6:p.Val145SerfsTer5 | |
| ENST00000167586.6:c.432dup | ENSP00000167586.6:p.Val145SerfsTer5 | |
| NM_000526.4:c.432dup | NP_000517.2:p.Val145SerfsTer5 | |
| NM_000526.5:c.432dup MANE Select | NP_000517.3:p.Val145SerfsTer5 |