Linked Data
ClinVar Variation Id:
2361518
ClinVar RCV Id:
RCV004203492
dbSNP Id:
rs746441724
ExAC:
11:122929478 T / C
gnomAD v2:
11-122929478-T-C
gnomAD v3:
11-123058770-T-C
gnomAD v4:
11-123058770-T-C
COSMIC:
COSM924146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123058770T>C , CM000673.2:g.123058770T>C | GRCh38 |
| NC_000011.9:g.122929478T>C , CM000673.1:g.122929478T>C | GRCh37 |
| NC_000011.8:g.122434688T>C | NCBI36 |
| NG_029473.1:g.8367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1384A>G MANE Select | ENSP00000432083.1:p.Thr462Ala | |
| ENST00000227378.7:c.1384A>G | ENSP00000227378.3:p.Thr462Ala | |
| ENST00000453788.6:c.1384A>G | ENSP00000404372.2:p.Thr462Ala | |
| ENST00000524552.5:c.157A>G | ENSP00000435908.1:p.Thr53Ala | |
| ENST00000526110.5:c.1327A>G | ENSP00000433584.1:p.Thr443Ala | |
| ENST00000526686.1:c.40A>G | ENSP00000435019.1:p.Thr14Ala | |
| ENST00000532091.1:n.1359A>G | ||
| ENST00000532636.5:c.1384A>G | ENSP00000437125.1:p.Thr462Ala | |
| ENST00000533540.5:c.946A>G | ENSP00000437189.1:p.Thr316Ala | |
| ENST00000534319.5:c.676A>G | ENSP00000433316.1:p.Thr226Ala | |
| ENST00000534624.5:c.1384A>G | ENSP00000432083.1:p.Thr462Ala | |
| NM_006597.5:c.1384A>G | NP_006588.1:p.Thr462Ala | |
| NM_153201.3:c.1384A>G | NP_694881.1:p.Thr462Ala | |
| XM_011542798.1:c.1384A>G | XP_011541100.1:p.Thr462Ala | |
| NM_006597.6:c.1384A>G MANE Select | NP_006588.1:p.Thr462Ala | |
| NM_153201.4:c.1384A>G | NP_694881.1:p.Thr462Ala |