Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196875463A= , CM000663.2:g.196875463A= | GRCh38 |
| NC_000001.10:g.196844593A= , CM000663.1:g.196844593A= | GRCh37 |
| NC_000001.9:g.195111216A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649395.1:n.427-9143A= | ||
| ENST00000367421.4:c.58+55561A= | ENSP00000356391.3:n.58+55561A= | |
| ENST00000608469.5:c.43+17055A= | ENSP00000477162.1:n.43+17055A= |