Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19704954T= , CM000686.2:g.19704954T= | GRCh38 |
| NC_000024.9:g.21866840T= , CM000686.1:g.21866840T= | GRCh37 |
| NC_000024.8:g.20326228T= | NCBI36 |
| NG_032920.1:g.44986A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004653.5:c.*1041A= MANE Select | NP_004644.2:n.*1041A= |
| ENST00000317961.9:c.*1041A= MANE Select | ENSP00000322408.4:n.*1041A= |
| NM_001146705.2:c.*1041A= | NP_001140177.1:n.*1041A= |
| NM_001146706.2:c.*1041A= | NP_001140178.1:n.*1041A= |
| ENST00000469599.6:n.4412A= |