Linked Data
ClinVar Variation Id:
224853
ClinVar RCV Id:
RCV000210434
dbSNP Id:
rs869312897
PubMed:
PMID:25045128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69181846G>A , CM000664.2:g.69181846G>A | GRCh38 |
| NC_000002.11:g.69408978G>A , CM000664.1:g.69408978G>A | GRCh37 |
| NC_000002.10:g.69262482G>A | NCBI36 |
| NG_012649.1:g.173703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303714.9:c.1150G>A MANE Select | ENSP00000301945.4:p.Gly384Ser | |
| ENST00000303714.8:c.1150G>A | ENSP00000301945.4:p.Gly384Ser | |
| NM_032208.2:c.1150G>A | NP_115584.1:p.Gly384Ser | |
| XM_011533124.1:c.1150G>A | XP_011531426.1:p.Gly384Ser | |
| XR_939725.1:n.1297G>A | ||
| NM_032208.3:c.1150G>A MANE Select | NP_115584.1:p.Gly384Ser |