Linked Data
ClinVar Variation Id:
7461
ClinVar RCV Id:
RCV000007887
RCV000115593
RCV000122091
RCV000656543
RCV001355263
RCV001797996
RCV002504766
dbSNP Id:
rs59912467
ExAC:
19:1223125 C / G
gnomAD v2:
19-1223125-C-G
gnomAD v3:
19-1223126-C-G
gnomAD v4:
19-1223126-C-G
COSMIC:
COSM21360
CIViC:
CA022247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223126C>G , CM000681.2:g.1223126C>G | GRCh38 |
| NC_000019.9:g.1223125C>G , CM000681.1:g.1223125C>G | GRCh37 |
| NC_000019.8:g.1174125C>G | NCBI36 |
| NG_007460.2:g.38720C>G , LRG_319:g.38720C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.1062C>G | ENSP00000490268.2:p.Phe354Leu | |
| ENST00000585748.3:c.690C>G | ENSP00000477641.2:p.Phe230Leu | |
| ENST00000585851.2:c.888C>G | ENSP00000467912.2:p.Phe296Leu | |
| ENST00000326873.12:c.1062C>G MANE Select | ENSP00000324856.6:p.Phe354Leu | |
| ENST00000652231.1:c.1062C>G | ENSP00000498804.1:p.Phe354Leu | |
| ENST00000326873.11:c.1062C>G | ENSP00000324856.6:p.Phe354Leu | |
| ENST00000586243.5:c.1062C>G | ENSP00000467240.2:p.Phe354Leu | |
| ENST00000589152.5:n.1760C>G | ||
| NM_000455.4:c.1062C>G , LRG_319t1:c.1062C>G | NP_000446.1:p.Phe354Leu | |
| XM_005259617.1:c.1062C>G | XP_005259674.1:p.Phe354Leu | |
| XM_005259618.3:c.1062C>G | XP_005259675.1:p.Phe354Leu | |
| XM_011528209.1:c.840C>G | XP_011526511.1:p.Phe280Leu | |
| XR_936204.1:n.1838C>G | ||
| XM_005259617.3:c.1062C>G | XP_005259674.1:p.Phe354Leu | |
| XM_011528209.2:c.840C>G | XP_011526511.1:p.Phe280Leu | |
| XR_001753738.2:n.1868C>G | ||
| XR_001753739.1:n.1868C>G | ||
| XR_001753740.2:n.1838C>G | ||
| NM_000455.5:c.1062C>G MANE Select | NP_000446.1:p.Phe354Leu |