Linked Data
ClinVar Variation Id:
56327
ClinVar RCV Id:
RCV000049739
dbSNP Id:
rs386833774
PubMed:
PMID:15024727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17129123G>A , CM000672.2:g.17129123G>A | GRCh38 |
| NC_000010.10:g.17171122G>A , CM000672.1:g.17171122G>A | GRCh37 |
| NC_000010.9:g.17211128G>A | NCBI36 |
| NG_008967.1:g.5695C>T , LRG_540:g.5695C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.250C>T MANE Select | ENSP00000367064.4:p.Gln84Ter | |
| ENST00000377823.1:c.250C>T | ENSP00000367054.1:p.Gln84Ter | |
| ENST00000377833.8:c.250C>T | ENSP00000367064.4:p.Gln84Ter | |
| NM_001081.3:c.250C>T , LRG_540t1:c.250C>T | NP_001072.2:p.Gln84Ter | |
| XM_011519708.1:c.250C>T | XP_011518010.1:p.Gln84Ter | |
| XM_011519708.2:c.250C>T | XP_011518010.1:p.Gln84Ter | |
| NM_001081.4:c.250C>T MANE Select | NP_001072.2:p.Gln84Ter |