Linked Data
ClinVar Variation Id:
458041
dbSNP Id:
rs752312972
ExAC:
19:1219319 C / G
gnomAD v2:
19-1219319-C-G
gnomAD v4:
19-1219320-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1219320C>G , CM000681.2:g.1219320C>G | GRCh38 |
| NC_000019.9:g.1219319C>G , CM000681.1:g.1219319C>G | GRCh37 |
| NC_000019.8:g.1170319C>G | NCBI36 |
| NG_007460.2:g.34914C>G , LRG_319:g.34914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.375-4C>G | ENSP00000490268.2:n.375-4C>G | |
| ENST00000585748.3:c.3-4C>G | ENSP00000477641.2:n.3-4C>G | |
| ENST00000585851.2:c.291-1053C>G | ENSP00000467912.2:n.291-1053C>G | |
| ENST00000326873.12:c.375-4C>G MANE Select | ENSP00000324856.6:n.375-4C>G | |
| ENST00000652231.1:c.375-4C>G | ENSP00000498804.1:n.375-4C>G | |
| ENST00000326873.11:c.375-4C>G | ENSP00000324856.6:n.375-4C>G | |
| ENST00000585748.2:c.3-4C>G | ENSP00000477641.1:n.3-4C>G | |
| ENST00000585851.1:c.291-1053C>G | ENSP00000467912.1:n.291-1053C>G | |
| ENST00000586243.5:c.375-4C>G | ENSP00000467240.2:n.375-4C>G | |
| ENST00000586358.5:n.198-4C>G | ||
| ENST00000589152.5:n.465-4C>G | ||
| ENST00000593219.5:c.*200-4C>G | ENSP00000466610.1:n.*200-4C>G | |
| NM_000455.4:c.375-4C>G , LRG_319t1:c.375-4C>G | NP_000446.1:n.375-4C>G | |
| XM_005259617.1:c.375-4C>G | XP_005259674.1:n.375-4C>G | |
| XM_005259618.3:c.375-4C>G | XP_005259675.1:n.375-4C>G | |
| XM_011528209.1:c.153-4C>G | XP_011526511.1:n.153-4C>G | |
| XR_936204.1:n.1000-4C>G | ||
| XM_005259617.3:c.375-4C>G | XP_005259674.1:n.375-4C>G | |
| XM_011528209.2:c.153-4C>G | XP_011526511.1:n.153-4C>G | |
| XR_001753738.2:n.1000-4C>G | ||
| XR_001753739.1:n.1000-4C>G | ||
| XR_001753740.2:n.1000-4C>G | ||
| NM_000455.5:c.375-4C>G MANE Select | NP_000446.1:n.375-4C>G |