Linked Data
ClinVar Variation Id:
4633
ClinVar RCV Id:
RCV000004896
dbSNP Id:
rs137852955
PubMed:
PMID:17668378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.35245020G>A , CM000669.2:g.35245020G>A | GRCh38 |
| NC_000007.13:g.35284632G>A , CM000669.1:g.35284632G>A | GRCh37 |
| NC_000007.12:g.35251157G>A | NCBI36 |
| NG_015805.1:g.14080C>T , LRG_755:g.14080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408931.4:c.583C>T MANE Select | ENSP00000386170.3:p.Gln195Ter | |
| ENST00000408931.3:c.583C>T | ENSP00000386170.3:p.Gln195Ter | |
| ENST00000492961.1:n.594C>T | ||
| NM_001077653.2:c.583C>T , LRG_755t1:c.583C>T MANE Select | NP_001071121.1:p.Gln195Ter | |
| NM_001166220.1:c.583C>T | NP_001159692.1:p.Gln195Ter | |
| XM_017012456.1:c.-15C>T | XP_016867945.1:n.-15C>T |