Linked Data
ClinVar Variation Id:
204198
ClinVar RCV Id:
RCV000186405
dbSNP Id:
rs180177261
PubMed:
PMID:15110324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875172del , CM000664.2:g.240875172del | GRCh38 |
| NC_000002.11:g.241814589del , CM000664.1:g.241814589del | GRCh37 |
| NC_000002.10:g.241463262del | NCBI36 |
| NG_008005.1:g.11428del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.744del MANE Select | ENSP00000302620.3:p.Asn249ThrfsTer24 | |
| ENST00000307503.3:c.744del | ENSP00000302620.3:p.Asn249ThrfsTer24 | |
| ENST00000476698.1:n.396del | ||
| NM_000030.2:c.744del | NP_000021.1:p.Asn249ThrfsTer24 | |
| NM_000030.3:c.744del MANE Select | NP_000021.1:p.Asn249ThrfsTer24 |