Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10446027C= , CM000674.2:g.10446027C= | GRCh38 |
| NC_000012.11:g.10598626C= , CM000674.1:g.10598626C= | GRCh37 |
| NC_000012.10:g.10489893C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536188.5:c.685+541G= | ENSP00000441432.1:n.685+541G= | |
| NM_001304448.1:c.685+541G= | NP_001291377.1:n.685+541G= | |
| XM_024448973.1:c.685+541G= | XP_024304741.1:n.685+541G= |