Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648713A= , CM000665.2:g.81648713A= | GRCh38 |
| NC_000003.11:g.81697864A= , CM000665.1:g.81697864A= | GRCh37 |
| NC_000003.10:g.81780554A= | NCBI36 |
| NG_011810.1:g.118088T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.691+143T= MANE Select | ENSP00000410833.2:n.691+143T= | |
| ENST00000429644.6:c.691+143T= | ENSP00000410833.2:n.691+143T= | |
| ENST00000489715.1:c.568+143T= | ENSP00000419638.1:n.568+143T= | |
| ENST00000498468.1:n.219+143T= | ||
| NM_000158.3:c.691+143T= | NP_000149.3:n.691+143T= | |
| NM_000158.4:c.691+143T= MANE Select | NP_000149.4:n.691+143T= |