Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152116968T= , CM000668.2:g.152116968T= | GRCh38 |
| NC_000006.11:g.152438103T= , CM000668.1:g.152438103T= | GRCh37 |
| NC_000006.10:g.152479796T= | NCBI36 |
| NG_008493.2:g.465278T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641399.1:n.1071-1295T= | ||
| ENST00000427531.6:c.851-8298T= | ENSP00000394721.2:n.851-8298T= | |
| NM_001328100.1:c.851-8298T= | NP_001315029.1:n.851-8298T= | |
| NM_001328100.2:c.851-8298T= | NP_001315029.1:n.851-8298T= |