Linked Data
ClinVar Variation Id:
376336
ClinVar RCV Id:
RCV000444968
dbSNP Id:
rs1057519858
gnomAD v4:
19-1220495-G-T
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220495G>T , CM000681.2:g.1220495G>T | GRCh38 |
| NC_000019.9:g.1220494G>T , CM000681.1:g.1220494G>T | GRCh37 |
| NC_000019.8:g.1171494G>T | NCBI36 |
| NG_007460.2:g.36089G>T , LRG_319:g.36089G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.587G>T | ENSP00000490268.2:p.Gly196Val | |
| ENST00000585748.3:c.215G>T | ENSP00000477641.2:p.Gly72Val | |
| ENST00000585851.2:c.413G>T | ENSP00000467912.2:p.Gly138Val | |
| ENST00000326873.12:c.587G>T MANE Select | ENSP00000324856.6:p.Gly196Val | |
| ENST00000652231.1:c.587G>T | ENSP00000498804.1:p.Gly196Val | |
| ENST00000326873.11:c.587G>T | ENSP00000324856.6:p.Gly196Val | |
| ENST00000585851.1:c.413G>T | ENSP00000467912.1:p.Gly138Val | |
| ENST00000586243.5:c.587G>T | ENSP00000467240.2:p.Gly196Val | |
| ENST00000586358.5:n.410G>T | ||
| ENST00000589152.5:n.677G>T | ||
| ENST00000591133.2:n.483G>T | ||
| NM_000455.4:c.587G>T , LRG_319t1:c.587G>T | NP_000446.1:p.Gly196Val | |
| XM_005259617.1:c.587G>T | XP_005259674.1:p.Gly196Val | |
| XM_005259618.3:c.587G>T | XP_005259675.1:p.Gly196Val | |
| XM_011528209.1:c.365G>T | XP_011526511.1:p.Gly122Val | |
| XR_936204.1:n.1212G>T | ||
| XM_005259617.3:c.587G>T | XP_005259674.1:p.Gly196Val | |
| XM_011528209.2:c.365G>T | XP_011526511.1:p.Gly122Val | |
| XR_001753738.2:n.1212G>T | ||
| XR_001753739.1:n.1212G>T | ||
| XR_001753740.2:n.1212G>T | ||
| NM_000455.5:c.587G>T MANE Select | NP_000446.1:p.Gly196Val |