Linked Data
ClinVar Variation Id:
10290
ClinVar RCV Id:
RCV000011003
dbSNP Id:
rs387906458
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904490dup , CM000685.2:g.154904490dup | GRCh38 |
| NC_000023.10:g.154132765dup , CM000685.1:g.154132765dup | GRCh37 |
| NC_000023.9:g.153785959dup | NCBI36 |
| NG_011403.1:g.123235dup | |
| NG_011403.2:g.123235dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5622dup MANE Select | ENSP00000353393.4:p.Leu1875SerfsTer6 | |
| ENST00000360256.8:c.5622dup | ENSP00000353393.4:p.Leu1875SerfsTer6 | |
| NM_000132.3:c.5622dup | NP_000123.1:p.Leu1875SerfsTer6 | |
| XM_011531126.1:c.5517dup | XP_011529428.1:p.Leu1840SerfsTer6 | |
| NM_000132.4:c.5622dup MANE Select | NP_000123.1:p.Leu1875SerfsTer6 |