Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10446013A= , CM000674.2:g.10446013A= | GRCh38 |
| NC_000012.11:g.10598612A= , CM000674.1:g.10598612A= | GRCh37 |
| NC_000012.10:g.10489879A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536188.5:c.685+555T= | ENSP00000441432.1:n.685+555T= | |
| NM_001304448.1:c.685+555T= | NP_001291377.1:n.685+555T= | |
| XM_024448973.1:c.685+555T= | XP_024304741.1:n.685+555T= |