Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190409941A= , CM000665.2:g.190409941A= | GRCh38 |
| NC_000003.11:g.190127730A= , CM000665.1:g.190127730A= | GRCh37 |
| NC_000003.10:g.191610424A= | NCBI36 |
| NG_008149.1:g.26890A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006580.4:c.613A= MANE Select | NP_006571.2:p.Lys205= |
| ENST00000264734.3:c.613A= MANE Select | ENSP00000264734.3:p.Lys205= |
| NM_001378492.1:c.613A= | NP_001365421.1:p.Lys205= |
| NM_001378493.1:c.613A= | NP_001365422.1:p.Lys205= |
| NM_006580.3:c.823A= | NP_006571.1:p.Lys275= |
| ENST00000264734.2:c.823A= | ENSP00000264734.2:p.Lys275= |
| ENST00000456423.1:c.363A= | ENSP00000414136.1:n.363A= |
| ENST00000456423.2:c.*3A= | ENSP00000414136.2:n.*3A= |