Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101693134C= , CM000665.2:g.101693134C= | GRCh38 |
| NC_000003.11:g.101411978C= , CM000665.1:g.101411978C= | GRCh37 |
| NC_000003.10:g.102894668C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000667844.1:n.730+165C= | |
| ENST00000685383.1:n.697+165C= | |
| XM_011513341.1:c.253C= | XP_011511643.1:p.Gln85= |
| XM_011513341.3:c.253C= | XP_011511643.1:p.Gln85= |
| XR_924279.1:n.192+5745C= | |
| XR_924280.1:n.70+165C= | |
| XR_924281.1:n.192+5745C= |