Linked Data
ClinVar Variation Id:
8463
ClinVar RCV Id:
RCV000008984
dbSNP Id:
rs121909337
PubMed:
PMID:19500772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86513083T>C , CM000678.2:g.86513083T>C | GRCh38 |
| NC_000016.9:g.86546689T>C , CM000678.1:g.86546689T>C | GRCh37 |
| NC_000016.8:g.85104190T>C | NCBI36 |
| NG_016273.1:g.7557T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262426.6:c.1138T>C MANE Select | ENSP00000262426.4:p.Ter380Arg | |
| ENST00000262426.5:c.1138T>C | ENSP00000262426.4:p.Ter380Arg | |
| NM_001451.2:c.1138T>C | NP_001442.2:p.Ter380Arg | |
| NM_001451.3:c.1138T>C MANE Select | NP_001442.2:p.Ter380Arg |