Linked Data
ClinVar Variation Id:
1133947
ClinVar RCV Id:
RCV001468689
dbSNP Id:
rs143149579
MyVariant Identifiers:
chr1:g.193111115T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193141985T>C , CM000663.2:g.193141985T>C | GRCh38 |
| NC_000001.10:g.193111115T>C , CM000663.1:g.193111115T>C | GRCh37 |
| NC_000001.9:g.191377738T>C | NCBI36 |
| NG_012691.1:g.25028T>C , LRG_507:g.25028T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.648T>C MANE Select | ENSP00000356405.4:p.Ala216= | |
| ENST00000635846.1:c.648T>C | ENSP00000490035.1:p.Ala216= | |
| ENST00000643006.1:c.648T>C | ENSP00000496633.1:p.Ala216= | |
| ENST00000643784.1:c.*124T>C | ENSP00000494944.1:n.*124T>C | |
| ENST00000647662.1:n.549T>C | ||
| ENST00000648071.1:c.*624T>C | ENSP00000497513.1:n.*624T>C | |
| ENST00000649606.1:n.661T>C | ||
| ENST00000649895.1:n.866T>C | ||
| ENST00000650197.1:c.648T>C | ENSP00000496929.1:p.Ala216= | |
| ENST00000367435.3:c.648T>C | ENSP00000356405.3:p.Ala216= | |
| NM_024529.4:c.648T>C , LRG_507t1:c.648T>C | NP_078805.3:p.Ala216= | |
| XM_006711537.2:c.648T>C | XP_006711600.1:p.Ala216= | |
| XM_006711537.4:c.648T>C | XP_006711600.1:p.Ala216= | |
| NM_024529.5:c.648T>C MANE Select | NP_078805.3:p.Ala216= |