Linked Data
ClinVar Variation Id:
1609645
dbSNP Id:
rs2145436544
MyVariant Identifiers:
chr19:g.1226616C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226617C>T , CM000681.2:g.1226617C>T | GRCh38 |
| NC_000019.9:g.1226616C>T , CM000681.1:g.1226616C>T | GRCh37 |
| NC_000019.8:g.1177616C>T | NCBI36 |
| NG_007460.2:g.42211C>T , LRG_319:g.42211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2873C>T | ENSP00000490268.2:n.*2873C>T | |
| ENST00000585748.3:c.900C>T | ENSP00000477641.2:p.Ile300= | |
| ENST00000585851.2:c.1098C>T | ENSP00000467912.2:p.Ile366= | |
| ENST00000326873.12:c.1272C>T MANE Select | ENSP00000324856.6:p.Ile424= | |
| ENST00000326873.11:c.1272C>T | ENSP00000324856.6:p.Ile424= | |
| ENST00000585465.2:n.3005C>T | ||
| ENST00000586243.5:c.1269C>T | ENSP00000467240.2:p.Ile423= | |
| ENST00000589152.5:n.1970C>T | ||
| NM_000455.4:c.1272C>T , LRG_319t1:c.1272C>T | NP_000446.1:p.Ile424= | |
| XM_005259617.1:c.1267C>T | XP_005259674.1:p.Pro423Ser | |
| XM_011528209.1:c.1045C>T | XP_011526511.1:p.Pro349Ser | |
| XM_005259617.3:c.1267C>T | XP_005259674.1:p.Pro423Ser | |
| XM_011528209.2:c.1045C>T | XP_011526511.1:p.Pro349Ser | |
| XR_001753738.2:n.2078C>T | ||
| XR_001753740.2:n.2048C>T | ||
| NM_000455.5:c.1272C>T MANE Select | NP_000446.1:p.Ile424= |