Linked Data
ClinVar Variation Id:
2700601
ClinVar RCV Id:
RCV003547301
MyVariant Identifiers:
chr5:g.52942074T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53646244T>G , CM000667.2:g.53646244T>G | GRCh38 |
| NC_000005.9:g.52942074T>G , CM000667.1:g.52942074T>G | GRCh37 |
| NC_000005.8:g.52977831T>G | NCBI36 |
| NG_008200.1:g.90610T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.189T>G MANE Select | ENSP00000296684.5:p.Thr63= | |
| ENST00000296684.9:c.189T>G | ENSP00000296684.5:p.Thr63= | |
| ENST00000502423.5:c.*56T>G | ENSP00000422177.1:n.*56T>G | |
| ENST00000506765.1:c.177T>G | ENSP00000424570.1:p.Thr59= | |
| ENST00000506974.5:c.361T>G | ENSP00000425967.1:p.Phe121Val | |
| ENST00000507026.5:c.*163T>G | ENSP00000424993.1:n.*163T>G | |
| ENST00000509443.1:n.50T>G | ||
| NM_002495.2:c.189T>G | NP_002486.1:p.Thr63= | |
| XM_005248525.3:c.189T>G | XP_005248582.1:p.Thr63= | |
| XM_011543415.1:c.15T>G | XP_011541717.1:p.Thr5= | |
| NM_001318051.1:c.189T>G | NP_001304980.1:p.Thr63= | |
| NM_002495.3:c.189T>G | NP_002486.1:p.Thr63= | |
| NR_134473.1:n.391T>G | ||
| NR_134474.1:n.308T>G | ||
| NR_134475.1:n.343T>G | ||
| NM_002495.4:c.189T>G MANE Select | NP_002486.1:p.Thr63= | |
| NM_001318051.2:c.189T>G | NP_001304980.1:p.Thr63= | |
| NR_134473.2:n.385T>G | ||
| NR_134474.2:n.302T>G | ||
| NR_134475.2:n.337T>G |