Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43025137A>G , CM000677.2:g.43025137A>G | GRCh38 |
| NC_000015.9:g.43317335A>G , CM000677.1:g.43317335A>G | GRCh37 |
| NC_000015.8:g.41104627A>G | NCBI36 |
| NG_012182.1:g.85952T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.2585-154T>C MANE Select | NP_777576.1:n.2585-154T>C |
| ENST00000290650.9:c.2585-154T>C MANE Select | ENSP00000290650.4:n.2585-154T>C |
| NM_174916.2:c.2585-154T>C | NP_777576.1:n.2585-154T>C |
| ENST00000290650.8:c.2585-154T>C | ENSP00000290650.4:n.2585-154T>C |
| ENST00000546274.6:c.2585-154T>C | ENSP00000477932.1:n.2585-154T>C |
| ENST00000564540.5:c.190-154T>C | |
| ENST00000569066.2:c.1705-154T>C | ENSP00000456327.1:n.1705-154T>C |
| ENST00000569243.5:c.153-154T>C |