Linked Data
dbSNP Id:
rs1343526933
gnomAD v2:
12-52910485-T-C
gnomAD v4:
12-52516701-T-C
COSMIC:
COSM6289094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516701T>C , CM000674.2:g.52516701T>C | GRCh38 |
| NC_000012.11:g.52910485T>C , CM000674.1:g.52910485T>C | GRCh37 |
| NC_000012.10:g.51196752T>C | NCBI36 |
| NG_008297.1:g.8759A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1375A>G MANE Select | ENSP00000252242.4:p.Thr459Ala | |
| ENST00000252242.8:c.1375A>G | ENSP00000252242.4:p.Thr459Ala | |
| ENST00000547890.5:n.753A>G | ||
| ENST00000548409.5:c.497A>G | ||
| ENST00000549511.5:n.582A>G | ||
| ENST00000552629.5:n.1473A>G | ||
| NM_000424.3:c.1375A>G | NP_000415.2:p.Thr459Ala | |
| NM_000424.4:c.1375A>G MANE Select | NP_000415.2:p.Thr459Ala |