Linked Data
ClinVar Variation Id:
17242
ClinVar RCV Id:
RCV000018782
dbSNP Id:
rs121912902
PubMed:
PMID:2777764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94424363G>A , CM000669.2:g.94424363G>A | GRCh38 |
| NC_000007.13:g.94053675G>A , CM000669.1:g.94053675G>A | GRCh37 |
| NC_000007.12:g.93891611G>A | NCBI36 |
| NG_007405.1:g.34803G>A , LRG_2:g.34803G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.2593G>A MANE Select | ENSP00000297268.6:p.Gly865Ser | |
| ENST00000297268.10:c.2593G>A | ENSP00000297268.6:p.Gly865Ser | |
| ENST00000469732.1:n.376G>A | ||
| ENST00000481570.5:n.1893G>A | ||
| ENST00000620463.1:c.2587G>A | ENSP00000477719.1:p.Gly863Ser | |
| NM_000089.3:c.2593G>A , LRG_2t1:c.2593G>A | NP_000080.2:p.Gly865Ser | |
| NM_000089.4:c.2593G>A MANE Select | NP_000080.2:p.Gly865Ser |