Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43048411T>G , CM000677.2:g.43048411T>G | GRCh38 |
| NC_000015.9:g.43340609T>G , CM000677.1:g.43340609T>G | GRCh37 |
| NC_000015.8:g.41127901T>G | NCBI36 |
| NG_012182.1:g.62678A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.1520A>C MANE Select | ENSP00000290650.4:p.Lys507Thr | |
| ENST00000290650.8:c.1520A>C | ENSP00000290650.4:p.Lys507Thr | |
| ENST00000546274.6:c.1520A>C | ENSP00000477932.1:p.Lys507Thr | |
| ENST00000563239.1:c.*203-1122A>C | ENSP00000456502.1:n.*203-1122A>C | |
| ENST00000569971.5:c.391A>C | ENSP00000455759.1:n.391A>C | |
| NM_174916.2:c.1520A>C | NP_777576.1:p.Lys507Thr | |
| NM_174916.3:c.1520A>C MANE Select | NP_777576.1:p.Lys507Thr |