Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154477431A= , CM000667.2:g.154477431A= | GRCh38 |
| NC_000005.9:g.153856991A= , CM000667.1:g.153856991A= | GRCh37 |
| NC_000005.8:g.153837184A= | NCBI36 |
| NG_052889.1:g.5834T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231121.3:c.543+35T= MANE Select | ENSP00000231121.2:n.543+35T= | |
| ENST00000231121.2:c.543+35T= | ENSP00000231121.2:n.543+35T= | |
| NM_004821.2:c.543+35T= | NP_004812.1:n.543+35T= | |
| XM_005268531.1:c.543+35T= | XP_005268588.1:n.543+35T= | |
| NM_004821.3:c.543+35T= MANE Select | NP_004812.1:n.543+35T= |