Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388121T= , CM000665.2:g.190388121T= | GRCh38 |
| NC_000003.11:g.190105910T= , CM000665.1:g.190105910T= | GRCh37 |
| NC_000003.10:g.191588604T= | NCBI36 |
| NG_008149.1:g.5070T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456423.2:c.-209T= | ENSP00000414136.2:n.-209T= | |
| ENST00000264734.2:c.2T= | ENSP00000264734.2:p.Met1= | |
| ENST00000456423.1:c.2T= | ENSP00000414136.1:p.Met1= | |
| ENST00000468220.1:n.306+13518T= | ||
| NM_006580.3:c.2T= | NP_006571.1:p.Met1= | |
| NM_001378492.1:c.-93-116T= | NP_001365421.1:n.-93-116T= | |
| NM_001378493.1:c.-93-116T= | NP_001365422.1:n.-93-116T= |