Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190410026C= , CM000665.2:g.190410026C= | GRCh38 |
| NC_000003.11:g.190127815C= , CM000665.1:g.190127815C= | GRCh37 |
| NC_000003.10:g.191610509C= | NCBI36 |
| NG_008149.1:g.26975C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006580.4:c.698C= MANE Select | NP_006571.2:p.Thr233= |
| ENST00000264734.3:c.698C= MANE Select | ENSP00000264734.3:p.Thr233= |
| NM_001378492.1:c.698C= | NP_001365421.1:p.Thr233= |
| NM_001378493.1:c.698C= | NP_001365422.1:p.Thr233= |
| NM_006580.3:c.908C= | NP_006571.1:p.Thr303= |
| ENST00000264734.2:c.908C= | ENSP00000264734.2:p.Thr303= |