Linked Data
ClinVar Variation Id:
372048
ClinVar RCV Id:
RCV000409150
dbSNP Id:
rs1057517626
gnomAD v4:
19-1219319-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1219319C>T , CM000681.2:g.1219319C>T | GRCh38 |
| NC_000019.9:g.1219318C>T , CM000681.1:g.1219318C>T | GRCh37 |
| NC_000019.8:g.1170318C>T | NCBI36 |
| NG_007460.2:g.34913C>T , LRG_319:g.34913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.375-5C>T | ENSP00000490268.2:n.375-5C>T | |
| ENST00000585748.3:c.3-5C>T | ENSP00000477641.2:n.3-5C>T | |
| ENST00000585851.2:c.291-1054C>T | ENSP00000467912.2:n.291-1054C>T | |
| ENST00000326873.12:c.375-5C>T MANE Select | ENSP00000324856.6:n.375-5C>T | |
| ENST00000652231.1:c.375-5C>T | ENSP00000498804.1:n.375-5C>T | |
| ENST00000326873.11:c.375-5C>T | ENSP00000324856.6:n.375-5C>T | |
| ENST00000585748.2:c.3-5C>T | ENSP00000477641.1:n.3-5C>T | |
| ENST00000585851.1:c.291-1054C>T | ENSP00000467912.1:n.291-1054C>T | |
| ENST00000586243.5:c.375-5C>T | ENSP00000467240.2:n.375-5C>T | |
| ENST00000586358.5:n.198-5C>T | ||
| ENST00000589152.5:n.465-5C>T | ||
| ENST00000593219.5:c.*200-5C>T | ENSP00000466610.1:n.*200-5C>T | |
| NM_000455.4:c.375-5C>T , LRG_319t1:c.375-5C>T | NP_000446.1:n.375-5C>T | |
| XM_005259617.1:c.375-5C>T | XP_005259674.1:n.375-5C>T | |
| XM_005259618.3:c.375-5C>T | XP_005259675.1:n.375-5C>T | |
| XM_011528209.1:c.153-5C>T | XP_011526511.1:n.153-5C>T | |
| XR_936204.1:n.1000-5C>T | ||
| XM_005259617.3:c.375-5C>T | XP_005259674.1:n.375-5C>T | |
| XM_011528209.2:c.153-5C>T | XP_011526511.1:n.153-5C>T | |
| XR_001753738.2:n.1000-5C>T | ||
| XR_001753739.1:n.1000-5C>T | ||
| XR_001753740.2:n.1000-5C>T | ||
| NM_000455.5:c.375-5C>T MANE Select | NP_000446.1:n.375-5C>T |