Linked Data
ClinVar Variation Id:
374991
ClinVar RCV Id:
RCV000415710
dbSNP Id:
rs1057519427
PubMed:
PMID:27889058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1496630dup , CM000681.2:g.1496630dup | GRCh38 |
| NC_000019.9:g.1496629dup , CM000681.1:g.1496629dup | GRCh37 |
| NC_000019.8:g.1447629dup | NCBI36 |
| NG_055254.1:g.10626dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233596.8:c.517+177dup MANE Select | ENSP00000233596.2:n.517+177dup | |
| ENST00000395479.10:c.557dup MANE Plus Clinical | ENSP00000378861.5:p.Val187GlyfsTer13 | |
| ENST00000233596.7:c.517+177dup | ENSP00000233596.2:n.517+177dup | |
| ENST00000395479.8:c.373dup | ||
| ENST00000395484.4:c.341dup | ENSP00000378865.4:p.Val115GlyfsTer13 | |
| NM_138393.1:c.517+177dup | NP_612402.1:n.517+177dup | |
| NM_001329556.2:c.557dup | NP_001316485.1:p.Val187GlyfsTer13 | |
| NM_138393.3:c.517+177dup | NP_612402.1:n.517+177dup | |
| NM_138393.4:c.517+177dup MANE Select | NP_612402.1:n.517+177dup | |
| NM_001329556.3:c.557dup MANE Plus Clinical | NP_001316485.1:p.Val187GlyfsTer13 |