Linked Data
ClinVar Variation Id:
16488
ClinVar RCV Id:
RCV000017952
dbSNP Id:
rs398124640
PubMed:
PMID:18413574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966676_48966691dup , CM000681.2:g.48966676_48966691dup | GRCh38 |
| NC_000019.9:g.49469933_49469948dup , CM000681.1:g.49469933_49469948dup | GRCh37 |
| NC_000019.8:g.54161745_54161760dup | NCBI36 |
| NG_008152.1:g.6368_6383dup | |
| NG_012923.1:g.31663_31678dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.469_484dup MANE Select | ENSP00000366525.2:p.Leu162ArgfsTer24 | |
| ENST00000331825.10:c.469_484dup | ENSP00000366525.2:p.Leu162ArgfsTer24 | |
| ENST00000622577.2:c.469_484dup | ENSP00000484043.1:p.Leu162ArgfsTer20 | |
| NM_000146.3:c.469_484dup | NP_000137.2:p.Leu162ArgfsTer24 | |
| XM_024451447.1:c.979_994dup | XP_024307215.1:p.Leu332ArgfsTer24 | |
| NM_000146.4:c.469_484dup MANE Select | NP_000137.2:p.Leu162ArgfsTer24 |