Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32219425T>G , CM000668.2:g.32219425T>G | GRCh38 |
| NC_000006.11:g.32187202T>G , CM000668.1:g.32187202T>G | GRCh37 |
| NC_000006.10:g.32295180T>G | NCBI36 |
| NG_028190.1:g.9643A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004557.4:c.1510+167A>C MANE Select | NP_004548.3:n.1510+167A>C |
| ENST00000375023.3:c.1510+167A>C MANE Select | ENSP00000364163.3:n.1510+167A>C |
| NM_004557.3:c.1510+167A>C | NP_004548.3:n.1510+167A>C |
| NR_134949.1:n.1649+167A>C | |
| NR_134949.2:n.1649+167A>C | |
| NR_134950.1:n.1649+167A>C | |
| NR_134950.2:n.1649+167A>C | |
| ENST00000473562.1:n.1639+167A>C |