Linked Data
ClinVar Variation Id:
204207
ClinVar RCV Id:
RCV000186414
dbSNP Id:
rs180177295
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877609del , CM000664.2:g.240877609del | GRCh38 |
| NC_000002.11:g.241817026del , CM000664.1:g.241817026del | GRCh37 |
| NC_000002.10:g.241465699del | NCBI36 |
| NG_008005.1:g.13865del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.919del MANE Select | ENSP00000302620.3:p.Leu307CysfsTer5 | |
| ENST00000307503.3:c.919del | ENSP00000302620.3:p.Leu307CysfsTer5 | |
| ENST00000470255.1:n.697del | ||
| NM_000030.2:c.919del | NP_000021.1:p.Leu307CysfsTer5 | |
| NM_000030.3:c.919del MANE Select | NP_000021.1:p.Leu307CysfsTer5 |