Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119206553C= , CM000673.2:g.119206553C= | GRCh38 |
| NC_000011.9:g.119077263C= , CM000673.1:g.119077263C= | GRCh37 |
| NC_000011.8:g.118582473C= | NCBI36 |
| NG_016808.1:g.5274C= , LRG_608:g.5274C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.136C= | ENSP00000515005.1:p.His46= | |
| ENST00000264033.6:c.136C= MANE Select | ENSP00000264033.3:p.His46= | |
| ENST00000637974.1:c.130C= | ENSP00000490763.1:p.His44= | |
| ENST00000264033.5:c.136C= | ENSP00000264033.3:p.His46= | |
| ENST00000634586.1:c.136C= | ENSP00000489218.1:p.His46= | |
| ENST00000634840.1:c.136C= | ENSP00000489324.1:p.His46= | |
| NM_005188.3:c.136C= , LRG_608t1:c.136C= | NP_005179.2:p.His46= | |
| XM_011543057.1:c.136C= | XP_011541359.1:p.His46= | |
| NM_005188.4:c.136C= MANE Select | NP_005179.2:p.His46= |