Linked Data
ClinVar Variation Id:
412535
dbSNP Id:
rs1060503780
gnomAD v3:
19-1220363-C-G
gnomAD v4:
19-1220363-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220363C>G , CM000681.2:g.1220363C>G | GRCh38 |
| NC_000019.9:g.1220362C>G , CM000681.1:g.1220362C>G | GRCh37 |
| NC_000019.8:g.1171362C>G | NCBI36 |
| NG_007460.2:g.35957C>G , LRG_319:g.35957C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.465-10C>G | ENSP00000490268.2:n.465-10C>G | |
| ENST00000585748.3:c.93-10C>G | ENSP00000477641.2:n.93-10C>G | |
| ENST00000585851.2:c.291-10C>G | ENSP00000467912.2:n.291-10C>G | |
| ENST00000326873.12:c.465-10C>G MANE Select | ENSP00000324856.6:n.465-10C>G | |
| ENST00000652231.1:c.465-10C>G | ENSP00000498804.1:n.465-10C>G | |
| ENST00000326873.11:c.465-10C>G | ENSP00000324856.6:n.465-10C>G | |
| ENST00000585851.1:c.291-10C>G | ENSP00000467912.1:n.291-10C>G | |
| ENST00000586243.5:c.465-10C>G | ENSP00000467240.2:n.465-10C>G | |
| ENST00000586358.5:n.288-10C>G | ||
| ENST00000589152.5:n.555-10C>G | ||
| ENST00000591133.2:n.351C>G | ||
| NM_000455.4:c.465-10C>G , LRG_319t1:c.465-10C>G | NP_000446.1:n.465-10C>G | |
| XM_005259617.1:c.465-10C>G | XP_005259674.1:n.465-10C>G | |
| XM_005259618.3:c.465-10C>G | XP_005259675.1:n.465-10C>G | |
| XM_011528209.1:c.243-10C>G | XP_011526511.1:n.243-10C>G | |
| XR_936204.1:n.1090-10C>G | ||
| XM_005259617.3:c.465-10C>G | XP_005259674.1:n.465-10C>G | |
| XM_011528209.2:c.243-10C>G | XP_011526511.1:n.243-10C>G | |
| XR_001753738.2:n.1090-10C>G | ||
| XR_001753739.1:n.1090-10C>G | ||
| XR_001753740.2:n.1090-10C>G | ||
| NM_000455.5:c.465-10C>G MANE Select | NP_000446.1:n.465-10C>G |