Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128312504A= , CM000667.2:g.128312504A= | GRCh38 |
| NC_000005.9:g.127648196A= , CM000667.1:g.127648196A= | GRCh37 |
| NC_000005.8:g.127676095A= | NCBI36 |
| NG_008750.1:g.230540T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1663+130T= | ||
| ENST00000703785.1:n.1583-551T= | ||
| ENST00000262464.9:c.4879+130T= MANE Select | ENSP00000262464.4:n.4879+130T= | |
| ENST00000262464.8:c.4879+130T= | ENSP00000262464.4:n.4879+130T= | |
| ENST00000508053.5:c.4879+130T= | ENSP00000424571.1:n.4879+130T= | |
| ENST00000619499.4:c.4876+130T= | ENSP00000482132.1:n.4876+130T= | |
| NM_001999.3:c.4879+130T= | NP_001990.2:n.4879+130T= | |
| XM_017009228.2:c.4726+130T= | XP_016864717.1:n.4726+130T= | |
| NM_001999.4:c.4879+130T= MANE Select | NP_001990.2:n.4879+130T= |