Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212146G>A , CM000670.2:g.23212146G>A | GRCh38 |
| NC_000008.10:g.23069659G>A , CM000670.1:g.23069659G>A | GRCh37 |
| NC_000008.9:g.23125604G>A | NCBI36 |
| NG_032107.1:g.18022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.373C>T MANE Select | ENSP00000221132.3:p.His125Tyr | |
| ENST00000221132.7:c.373C>T | ENSP00000221132.3:p.His125Tyr | |
| ENST00000524158.5:c.-234C>T | ENSP00000428884.1:n.-234C>T | |
| ENST00000613472.1:c.32-9487C>T | ENSP00000480778.1:n.32-9487C>T | |
| NM_003844.3:c.373C>T | NP_003835.3:p.His125Tyr | |
| NM_003844.4:c.373C>T MANE Select | NP_003835.3:p.His125Tyr |