Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74000975A= , CM000673.2:g.74000975A= | GRCh38 |
| NC_000011.9:g.73712020A= , CM000673.1:g.73712020A= | GRCh37 |
| NC_000011.8:g.73389668A= | NCBI36 |
| NG_011515.1:g.13263T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003356.4:c.*437T= MANE Select | NP_003347.1:n.*437T= |
| ENST00000314032.9:c.*437T= MANE Select | ENSP00000323740.4:n.*437T= |
| NM_003356.3:c.*437T= | NP_003347.1:n.*437T= |
| ENST00000314032.8:c.*437T= | ENSP00000323740.4:n.*437T= |
| XR_950298.1:n.1768+4941A= |