Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043894C= , CM000663.2:g.55043894C= | GRCh38 |
| NC_000001.10:g.55509567C= , CM000663.1:g.55509567C= | GRCh37 |
| NC_000001.9:g.55282155C= | NCBI36 |
| NG_009061.1:g.9348C= , LRG_275:g.9348C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.259C= | ENSP00000501161.2:p.His87= | |
| ENST00000710286.1:c.616C= | ENSP00000518176.1:p.His206= | |
| ENST00000673726.1:c.259C= | ENSP00000501004.1:p.His87= | |
| ENST00000673903.1:c.-117C= | ENSP00000501257.1:n.-117C= | |
| ENST00000302118.5:c.259C= MANE Select | ENSP00000303208.5:p.His87= | |
| NM_174936.3:c.259C= , LRG_275t1:c.259C= | NP_777596.2:p.His87= | |
| NR_110451.1:n.182+3491C= | ||
| NM_174936.4:c.259C= MANE Select | NP_777596.2:p.His87= | |
| NR_110451.2:n.182+3491C= |