Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698046C= , CM000678.2:g.46698046C= | GRCh38 |
| NC_000016.9:g.46731958C= , CM000678.1:g.46731958C= | GRCh37 |
| NC_000016.8:g.45289459C= | NCBI36 |
| NG_028241.1:g.13401C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*461C= MANE Select | ENSP00000219097.2:n.*461C= | |
| ENST00000219097.6:c.*461C= | ENSP00000219097.2:n.*461C= | |
| ENST00000566860.1:c.*461C= | ENSP00000456981.1:n.*461C= | |
| ENST00000567000.2:n.1224C= | ||
| NM_014321.3:c.*461C= | NP_055136.1:n.*461C= | |
| NR_037620.1:n.1339C= | ||
| NM_014321.4:c.*461C= MANE Select | NP_055136.1:n.*461C= | |
| NR_037620.2:n.1326C= |