Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637515C= , CM000672.2:g.92637515C= | GRCh38 |
| NC_000010.10:g.94397272C= , CM000672.1:g.94397272C= | GRCh37 |
| NC_000010.9:g.94387252C= | NCBI36 |
| NG_032580.1:g.49448C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2130C= MANE Select | ENSP00000260731.3:p.Asp710= | |
| ENST00000676621.1:c.*648C= | ENSP00000503639.1:n.*648C= | |
| ENST00000676647.1:c.1923C= | ENSP00000503394.1:p.Asp641= | |
| ENST00000676757.1:c.1923C= | ENSP00000504289.1:p.Asp641= | |
| ENST00000677720.1:c.*104C= | ENSP00000504840.1:n.*104C= | |
| ENST00000260731.4:c.2130C= | ENSP00000260731.3:p.Asp710= | |
| NM_004523.3:c.2130C= | NP_004514.2:p.Asp710= | |
| NM_004523.4:c.2130C= MANE Select | NP_004514.2:p.Asp710= |