Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718045C= , CM000674.2:g.12718045C= | GRCh38 |
| NC_000012.11:g.12870979C= , CM000674.1:g.12870979C= | GRCh37 |
| NC_000012.10:g.12762246C= | NCBI36 |
| NG_016341.1:g.5678C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004064.5:c.206C= MANE Select | NP_004055.1:p.Pro69= |
| ENST00000228872.9:c.206C= MANE Select | ENSP00000228872.4:p.Pro69= |
| NM_004064.4:c.206C= | NP_004055.1:p.Pro69= |
| ENST00000228872.8:c.206C= | ENSP00000228872.4:p.Pro69= |
| ENST00000396340.1:c.206C= | ENSP00000379629.1:p.Pro69= |
| ENST00000442489.1:c.185C= | ENSP00000407597.1:p.Pro62= |
| ENST00000477087.1:n.155-780C= | |
| ENST00000614874.2:c.206C= | ENSP00000507272.1:p.Pro69= |
| ENST00000682620.1:n.1631-780C= | |
| ENST00000684771.1:n.585-780C= |