Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465684T= , CM000685.2:g.54465684T= | GRCh38 |
| NC_000023.10:g.54492117T= , CM000685.1:g.54492117T= | GRCh37 |
| NC_000023.9:g.54508842T= | NCBI36 |
| NG_008054.1:g.35483A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1497+12A= MANE Select | ENSP00000364277.3:n.1497+12A= | |
| ENST00000375135.3:c.1497+12A= | ENSP00000364277.3:n.1497+12A= | |
| NM_004463.2:c.1497+12A= | NP_004454.2:n.1497+12A= | |
| NM_004463.3:c.1497+12A= MANE Select | NP_004454.2:n.1497+12A= |