Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698037C>A , CM000678.2:g.46698037C>A | GRCh38 |
| NC_000016.9:g.46731949C>A , CM000678.1:g.46731949C>A | GRCh37 |
| NC_000016.8:g.45289450C>A | NCBI36 |
| NG_028241.1:g.13392C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*452C>A MANE Select | ENSP00000219097.2:n.*452C>A | |
| ENST00000219097.6:c.*452C>A | ENSP00000219097.2:n.*452C>A | |
| ENST00000566860.1:c.*452C>A | ENSP00000456981.1:n.*452C>A | |
| ENST00000567000.2:n.1215C>A | ||
| NM_014321.3:c.*452C>A | NP_055136.1:n.*452C>A | |
| NR_037620.1:n.1330C>A | ||
| NM_014321.4:c.*452C>A MANE Select | NP_055136.1:n.*452C>A | |
| NR_037620.2:n.1317C>A |