Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178014463A= , CM000664.2:g.178014463A= | GRCh38 |
| NC_000002.11:g.178879190A= , CM000664.1:g.178879190A= | GRCh37 |
| NC_000002.10:g.178587436A= | NCBI36 |
| NG_012168.1:g.98877T= | |
| NG_012168.2:g.98877T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.913-3T= MANE Select | ENSP00000286063.5:n.913-3T= | |
| ENST00000286063.10:c.913-3T= | ENSP00000286063.5:n.913-3T= | |
| ENST00000358450.8:c.163-3T= | ENSP00000351232.4:n.163-3T= | |
| NM_001077197.1:c.163-3T= | NP_001070665.1:n.163-3T= | |
| NM_016953.3:c.913-3T= | NP_058649.3:n.913-3T= | |
| NM_016953.4:c.913-3T= MANE Select | NP_058649.3:n.913-3T= | |
| NM_001077197.2:c.163-3T= | NP_001070665.1:n.163-3T= |