Linked Data
ClinVar Variation Id:
204193
ClinVar RCV Id:
RCV000186400
dbSNP Id:
rs180177251
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874024_240874027del , CM000664.2:g.240874024_240874027del | GRCh38 |
| NC_000002.11:g.241813441_241813444del , CM000664.1:g.241813441_241813444del | GRCh37 |
| NC_000002.10:g.241462114_241462117del | NCBI36 |
| NG_008005.1:g.10280_10283del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.642_645del MANE Select | ENSP00000302620.3:p.Pro215GlyfsTer? | |
| ENST00000307503.3:c.642_645del | ENSP00000302620.3:p.Pro215GlyfsTer? | |
| ENST00000476698.1:n.332+975_332+978del | ||
| NM_000030.2:c.642_645del | NP_000021.1:p.Pro215GlyfsTer? | |
| NM_000030.3:c.642_645del MANE Select | NP_000021.1:p.Pro215GlyfsTer? |