Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444312T= , CM000667.2:g.1444312T= | GRCh38 |
| NC_000005.9:g.1444427T= , CM000667.1:g.1444427T= | GRCh37 |
| NC_000005.8:g.1497427T= | NCBI36 |
| NG_015885.1:g.6117A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.-46+1036A= MANE Select | NP_001035.1:n.-46+1036A= |
| ENST00000270349.12:c.-46+1036A= MANE Select | ENSP00000270349.9:n.-46+1036A= |
| NM_001044.4:c.-46+1036A= | NP_001035.1:n.-46+1036A= |
| ENST00000270349.11:c.-46+1036A= | ENSP00000270349.9:n.-46+1036A= |