Linked Data
ClinVar Variation Id:
374874
ClinVar RCV Id:
RCV000415532
dbSNP Id:
rs1057519282
PubMed:
PMID:27992417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35719507dup , CM000681.2:g.35719507dup | GRCh38 |
| NC_000019.9:g.36210409dup , CM000681.1:g.36210409dup | GRCh37 |
| NC_000019.8:g.40902249dup | NCBI36 |
| NG_052906.1:g.6489dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673918.2:c.402dup | ENSP00000501283.1:p.Ser135GlnfsTer27 | |
| ENST00000687718.1:c.364-277dup | ENSP00000510535.1:n.364-277dup | |
| ENST00000692961.1:c.402dup | ENSP00000509289.1:p.Ser135GlnfsTer23 | |
| ENST00000420124.4:c.402dup MANE Select | ENSP00000398837.2:p.Ser135GlnfsTer23 | |
| ENST00000673918.1:c.402dup | ENSP00000501283.1:p.Ser135GlnfsTer27 | |
| ENST00000420124.2:c.402dup | ENSP00000398837.1:p.Ser135GlnfsTer23 | |
| NM_014727.2:c.402dup | NP_055542.1:p.Ser135GlnfsTer23 | |
| XM_011527561.1:c.402dup | XP_011525863.1:p.Ser135GlnfsTer27 | |
| XM_011527562.1:c.402dup | XP_011525864.1:p.Ser135GlnfsTer23 | |
| XM_011527563.1:c.402dup | XP_011525865.1:p.Ser135GlnfsTer23 | |
| XR_935878.1:n.426dup | ||
| XM_011527561.2:c.-97dup | XP_011525863.2:n.-97dup | |
| XM_011527562.2:c.402dup | XP_011525864.1:p.Ser135GlnfsTer23 | |
| XM_017027544.1:c.402dup | XP_016883033.1:p.Ser135GlnfsTer23 | |
| XM_017027545.1:c.-128-277dup | XP_016883034.1:n.-128-277dup | |
| XR_935878.2:n.603dup | ||
| NM_014727.3:c.402dup MANE Select | NP_055542.1:p.Ser135GlnfsTer23 |