Linked Data
ClinVar Variation Id:
376741
ClinVar RCV Id:
RCV000427128
dbSNP Id:
rs1057520038
gnomAD v4:
19-1220627-G-A
COSMIC:
COSM21357
PubMed:
PMID:21816872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220627G>A , CM000681.2:g.1220627G>A | GRCh38 |
| NC_000019.9:g.1220626G>A , CM000681.1:g.1220626G>A | GRCh37 |
| NC_000019.8:g.1171626G>A | NCBI36 |
| NG_007460.2:g.36221G>A , LRG_319:g.36221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.644G>A | ENSP00000490268.2:p.Gly215Asp | |
| ENST00000585748.3:c.272G>A | ENSP00000477641.2:p.Gly91Asp | |
| ENST00000585851.2:c.470G>A | ENSP00000467912.2:p.Gly157Asp | |
| ENST00000326873.12:c.644G>A MANE Select | ENSP00000324856.6:p.Gly215Asp | |
| ENST00000652231.1:c.644G>A | ENSP00000498804.1:p.Gly215Asp | |
| ENST00000326873.11:c.644G>A | ENSP00000324856.6:p.Gly215Asp | |
| ENST00000586243.5:c.644G>A | ENSP00000467240.2:p.Gly215Asp | |
| ENST00000586358.5:n.542G>A | ||
| ENST00000589152.5:n.734G>A | ||
| ENST00000591133.2:n.615G>A | ||
| NM_000455.4:c.644G>A , LRG_319t1:c.644G>A | NP_000446.1:p.Gly215Asp | |
| XM_005259617.1:c.644G>A | XP_005259674.1:p.Gly215Asp | |
| XM_005259618.3:c.644G>A | XP_005259675.1:p.Gly215Asp | |
| XM_011528209.1:c.422G>A | XP_011526511.1:p.Gly141Asp | |
| XR_936204.1:n.1269G>A | ||
| XM_005259617.3:c.644G>A | XP_005259674.1:p.Gly215Asp | |
| XM_011528209.2:c.422G>A | XP_011526511.1:p.Gly141Asp | |
| XR_001753738.2:n.1269G>A | ||
| XR_001753739.1:n.1269G>A | ||
| XR_001753740.2:n.1269G>A | ||
| NM_000455.5:c.644G>A MANE Select | NP_000446.1:p.Gly215Asp |