Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104050609T= , CM000672.2:g.104050609T= | GRCh38 |
| NC_000010.10:g.105810367T= , CM000672.1:g.105810367T= | GRCh37 |
| NC_000010.9:g.105800357T= | NCBI36 |
| NG_007069.1:g.40272A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.2128+12A= MANE Select | NP_000485.3:n.2128+12A= |
| ENST00000648076.2:c.2128+12A= MANE Select | ENSP00000497653.1:n.2128+12A= |
| NM_000494.3:c.2128+12A= | NP_000485.3:n.2128+12A= |
| ENST00000353479.9:c.2128+12A= | ENSP00000340937.5:n.2128+12A= |
| ENST00000369733.7:c.2128+12A= | ENSP00000358748.3:n.2128+12A= |
| ENST00000369733.8:c.2128+12A= | ENSP00000358748.3:n.2128+12A= |