Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388160A= , CM000665.2:g.190388160A= | GRCh38 |
| NC_000003.11:g.190105949A= , CM000665.1:g.190105949A= | GRCh37 |
| NC_000003.10:g.191588643A= | NCBI36 |
| NG_008149.1:g.5109A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456423.2:c.-170A= | ENSP00000414136.2:n.-170A= | |
| ENST00000264734.2:c.41A= | ENSP00000264734.2:p.Tyr14= | |
| ENST00000456423.1:c.41A= | ENSP00000414136.1:p.Tyr14= | |
| ENST00000468220.1:n.306+13557A= | ||
| NM_006580.3:c.41A= | NP_006571.1:p.Tyr14= | |
| NM_001378492.1:c.-93-77A= | NP_001365421.1:n.-93-77A= | |
| NM_001378493.1:c.-93-77A= | NP_001365422.1:n.-93-77A= |