Linked Data
ClinVar Variation Id:
5174
ClinVar RCV Id:
RCV000005482
dbSNP Id:
rs1057519015
PubMed:
PMID:12750403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73325406del , CM000677.2:g.73325406del | GRCh38 |
| NC_000015.9:g.73617747del , CM000677.1:g.73617747del | GRCh37 |
| NC_000015.8:g.71404800del | NCBI36 |
| NG_009063.1:g.48861del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1631del MANE Select | ENSP00000261917.3:p.Pro544ArgfsTer30 | |
| ENST00000261917.3:c.1631del | ENSP00000261917.3:p.Pro544ArgfsTer30 | |
| NM_005477.2:c.1631del | NP_005468.1:p.Pro544ArgfsTer30 | |
| XM_011521148.1:c.413del | XP_011519450.1:p.Pro138ArgfsTer30 | |
| XM_011521148.2:c.413del | XP_011519450.1:p.Pro138ArgfsTer30 | |
| NM_005477.3:c.1631del MANE Select | NP_005468.1:p.Pro544ArgfsTer30 |