Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154847A= , CM000668.2:g.3154847A= | GRCh38 |
| NC_000006.11:g.3155081A= , CM000668.1:g.3155081A= | GRCh37 |
| NC_000006.10:g.3100080A= | NCBI36 |
| NG_042223.1:g.7703T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.354T= MANE Select | ENSP00000369703.2:p.Asp118= | |
| ENST00000679400.1:n.410T= | ||
| ENST00000679907.1:n.742T= | ||
| ENST00000680036.1:n.1136T= | ||
| ENST00000680967.1:n.1444T= | ||
| ENST00000333628.3:c.354T= | ENSP00000369703.2:p.Asp118= | |
| ENST00000489942.1:n.549T= | ||
| NM_001069.2:c.354T= | NP_001060.1:p.Asp118= | |
| NM_001310315.1:c.99T= | NP_001297244.1:p.Asp33= | |
| NM_001069.3:c.354T= MANE Select | NP_001060.1:p.Asp118= | |
| NM_001310315.2:c.99T= | NP_001297244.1:p.Asp33= |