Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35175874C= , CM000682.2:g.35175874C= | GRCh38 |
| NC_000020.10:g.33763677C= , CM000682.1:g.33763677C= | GRCh37 |
| NC_000020.9:g.33227338C= | NCBI36 |
| NG_032899.1:g.8904C= | |
| NG_032899.2:g.8904C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216968.5:c.323-294C= MANE Select | ENSP00000216968.3:n.323-294C= | |
| ENST00000216968.4:c.323-294C= | ENSP00000216968.3:n.323-294C= | |
| ENST00000635377.1:c.223-294C= | ||
| NM_006404.4:c.323-294C= | NP_006395.2:n.323-294C= | |
| XM_011528496.1:c.323-294C= | XP_011526798.1:n.323-294C= | |
| NM_001355008.1:c.-101-10003G= | NP_001341937.1:n.-101-10003G= | |
| NM_006404.5:c.323-294C= MANE Select | NP_006395.2:n.323-294C= | |
| NM_001355008.2:c.-101-10003G= | NP_001341937.1:n.-101-10003G= |