Linked Data
ClinVar Variation Id:
221938
ClinVar RCV Id:
RCV000207395
dbSNP Id:
rs200789033
ExAC:
12:52408879 G / A
gnomAD v2:
12-52408879-G-A
gnomAD v3:
12-52015095-G-A
gnomAD v4:
12-52015095-G-A
PubMed:
PMID:26893459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52015095G>A , CM000674.2:g.52015095G>A | GRCh38 |
| NC_000012.11:g.52408879G>A , CM000674.1:g.52408879G>A | GRCh37 |
| NC_000012.10:g.50695146G>A | NCBI36 |
| NG_050572.1:g.13159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293662.9:c.1084G>A MANE Select | ENSP00000293662.4:p.Gly362Ser | |
| ENST00000293662.8:c.1084G>A | ENSP00000293662.4:p.Gly362Ser | |
| ENST00000552049.5:c.655G>A | ENSP00000449492.1:p.Gly219Ser | |
| ENST00000552508.1:n.821G>A | ||
| ENST00000552963.5:n.840G>A | ||
| NM_001271856.1:c.655G>A | NP_001258785.1:p.Gly219Ser | |
| NM_181711.3:c.1084G>A | NP_859062.1:p.Gly362Ser | |
| XM_005268691.3:c.694G>A | XP_005268748.1:p.Gly232Ser | |
| XM_011537996.1:c.694G>A | XP_011536298.1:p.Gly232Ser | |
| NM_181711.4:c.1084G>A MANE Select | NP_859062.1:p.Gly362Ser | |
| NM_001271856.2:c.655G>A | NP_001258785.1:p.Gly219Ser |