Linked Data
ClinVar Variation Id:
423689
dbSNP Id:
rs200568988
ExAC:
2:73828388 C / T
gnomAD v2:
2-73828388-C-T
gnomAD v3:
2-73601261-C-T
gnomAD v4:
2-73601261-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601261C>T , CM000664.2:g.73601261C>T | GRCh38 |
| NC_000002.11:g.73828388C>T , CM000664.1:g.73828388C>T | GRCh37 |
| NC_000002.10:g.73681896C>T | NCBI36 |
| NG_011690.1:g.220509C>T , LRG_741:g.220509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11558C>T | ENSP00000507671.1:p.Thr3853Ile | |
| ENST00000682801.1:c.11167-924C>T | ENSP00000507862.1:n.11167-924C>T | |
| ENST00000682859.1:c.11558C>T | ENSP00000508222.1:p.Thr3853Ile | |
| ENST00000683791.1:c.4644C>T | ||
| ENST00000684460.1:c.8839C>T | ||
| ENST00000684548.1:c.11558C>T | ENSP00000507421.1:p.Thr3853Ile | |
| ENST00000684590.1:c.6005C>T | ENSP00000507376.1:p.Thr2002Ile | |
| ENST00000684656.1:c.9023C>T | ||
| ENST00000613296.6:c.11939C>T MANE Select | ENSP00000482968.1:p.Thr3980Ile | |
| ENST00000651057.1:c.2093C>T | ENSP00000498504.1:p.Thr698Ile | |
| ENST00000651434.1:c.3295C>T | ||
| ENST00000651750.1:c.1260+380C>T | ||
| ENST00000652487.1:c.3110C>T | ||
| ENST00000464408.3:n.114C>T | ||
| ENST00000484298.5:c.11813C>T | ENSP00000478155.1:p.Thr3938Ile | |
| ENST00000613296.4:c.11939C>T | ENSP00000482968.1:p.Thr3980Ile | |
| ENST00000620466.4:n.5742C>T | ||
| NM_015120.4:c.11942C>T , LRG_741t1:c.11942C>T | NP_055935.4:p.Thr3981Ile | |
| NM_001378454.1:c.11939C>T MANE Select | NP_001365383.1:p.Thr3980Ile |