Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648985G>A , CM000665.2:g.81648985G>A | GRCh38 |
| NC_000003.11:g.81698136G>A , CM000665.1:g.81698136G>A | GRCh37 |
| NC_000003.10:g.81780826G>A | NCBI36 |
| NG_011810.1:g.117816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.562C>T MANE Select | ENSP00000410833.2:p.His188Tyr | |
| ENST00000429644.6:c.562C>T | ENSP00000410833.2:p.His188Tyr | |
| ENST00000486920.1:n.558C>T | ||
| ENST00000489715.1:c.439C>T | ENSP00000419638.1:p.His147Tyr | |
| ENST00000498468.1:n.90C>T | ||
| NM_000158.3:c.562C>T | NP_000149.3:p.His188Tyr | |
| NM_000158.4:c.562C>T MANE Select | NP_000149.4:p.His188Tyr |