Linked Data
ClinVar Variation Id:
369668
ClinVar RCV Id:
RCV000408630
dbSNP Id:
rs1057516036
PubMed:
PMID:26938784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423065G>A , CM000669.2:g.94423065G>A | GRCh38 |
| NC_000007.13:g.94052377G>A , CM000669.1:g.94052377G>A | GRCh37 |
| NC_000007.12:g.93890313G>A | NCBI36 |
| NG_007405.1:g.33505G>A , LRG_2:g.33505G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.2512G>A MANE Select | ENSP00000297268.6:p.Gly838Ser | |
| ENST00000297268.10:c.2512G>A | ENSP00000297268.6:p.Gly838Ser | |
| ENST00000481570.5:n.595G>A | ||
| ENST00000497316.5:n.909G>A | ||
| ENST00000620463.1:c.2506G>A | ENSP00000477719.1:p.Gly836Ser | |
| NM_000089.3:c.2512G>A , LRG_2t1:c.2512G>A | NP_000080.2:p.Gly838Ser | |
| NM_000089.4:c.2512G>A MANE Select | NP_000080.2:p.Gly838Ser |