Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698129G= , CM000678.2:g.46698129G= | GRCh38 |
| NC_000016.9:g.46732041G= , CM000678.1:g.46732041G= | GRCh37 |
| NC_000016.8:g.45289542G= | NCBI36 |
| NG_028241.1:g.13484G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*544G= MANE Select | ENSP00000219097.2:n.*544G= | |
| ENST00000219097.6:c.*544G= | ENSP00000219097.2:n.*544G= | |
| ENST00000566860.1:c.*544G= | ENSP00000456981.1:n.*544G= | |
| ENST00000567000.2:n.1307G= | ||
| NM_014321.3:c.*544G= | NP_055136.1:n.*544G= | |
| NR_037620.1:n.1422G= | ||
| NM_014321.4:c.*544G= MANE Select | NP_055136.1:n.*544G= | |
| NR_037620.2:n.1409G= |