Linked Data
ClinVar Variation Id:
1088513
dbSNP Id:
rs2103126329
gnomAD v4:
1-193142000-C-T
MyVariant Identifiers:
chr1:g.193111130C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142000C>T , CM000663.2:g.193142000C>T | GRCh38 |
| NC_000001.10:g.193111130C>T , CM000663.1:g.193111130C>T | GRCh37 |
| NC_000001.9:g.191377753C>T | NCBI36 |
| NG_012691.1:g.25043C>T , LRG_507:g.25043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.663C>T MANE Select | ENSP00000356405.4:p.Thr221= | |
| ENST00000635846.1:c.663C>T | ENSP00000490035.1:p.Thr221= | |
| ENST00000643006.1:c.663C>T | ENSP00000496633.1:p.Thr221= | |
| ENST00000643784.1:c.*139C>T | ENSP00000494944.1:n.*139C>T | |
| ENST00000647662.1:n.564C>T | ||
| ENST00000648071.1:c.*639C>T | ENSP00000497513.1:n.*639C>T | |
| ENST00000649606.1:n.676C>T | ||
| ENST00000649895.1:n.881C>T | ||
| ENST00000650197.1:c.663C>T | ENSP00000496929.1:p.Thr221= | |
| ENST00000367435.3:c.663C>T | ENSP00000356405.3:p.Thr221= | |
| NM_024529.4:c.663C>T , LRG_507t1:c.663C>T | NP_078805.3:p.Thr221= | |
| XM_006711537.2:c.663C>T | XP_006711600.1:p.Thr221= | |
| XM_006711537.4:c.663C>T | XP_006711600.1:p.Thr221= | |
| NM_024529.5:c.663C>T MANE Select | NP_078805.3:p.Thr221= |