Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151206329C= , CM000667.2:g.151206329C= | GRCh38 |
| NC_000005.9:g.150585890C= , CM000667.1:g.150585890C= | GRCh37 |
| NC_000005.8:g.150566083C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355417.7:c.49-854G= MANE Select | ENSP00000347586.2:n.49-854G= | |
| ENST00000355417.6:c.49-854G= | ENSP00000347586.2:n.49-854G= | |
| ENST00000521308.5:n.172-4641G= | ||
| ENST00000522179.1:n.491-854G= | ||
| NM_015621.2:c.49-854G= | NP_056436.2:n.49-854G= | |
| NM_015621.3:c.49-854G= MANE Select | NP_056436.2:n.49-854G= |