Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26773694G= , CM000677.2:g.26773694G= | GRCh38 |
| NC_000015.9:g.27018841G= , CM000677.1:g.27018841G= | GRCh37 |
| NC_000015.8:g.24569934G= | NCBI36 |
| NG_012836.1:g.5087C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021912.4:c.31C= | NP_068712.1:p.Pro11= |
| NM_021912.5:c.31C= | NP_068712.1:p.Pro11= |
| ENST00000299267.8:c.31C= | ENSP00000299267.4:p.Pro11= |
| ENST00000299267.9:c.31C= | ENSP00000299267.4:p.Pro11= |
| ENST00000541819.6:c.249-922C= | ENSP00000442408.2:n.249-922C= |
| ENST00000554722.1:n.58C= | |
| ENST00000557641.5:n.453-922C= | |
| ENST00000638099.1:c.-20+249C= | ENSP00000490678.1:n.-20+249C= |