Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648854A= , CM000665.2:g.81648854A= | GRCh38 |
| NC_000003.11:g.81698005A= , CM000665.1:g.81698005A= | GRCh37 |
| NC_000003.10:g.81780695A= | NCBI36 |
| NG_011810.1:g.117947T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.691+2T= MANE Select | NP_000149.4:n.691+2T= |
| ENST00000429644.7:c.691+2T= MANE Select | ENSP00000410833.2:n.691+2T= |
| NM_000158.3:c.691+2T= | NP_000149.3:n.691+2T= |
| ENST00000429644.6:c.691+2T= | ENSP00000410833.2:n.691+2T= |
| ENST00000489715.1:c.568+2T= | ENSP00000419638.1:n.568+2T= |
| ENST00000498468.1:n.219+2T= |