Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22148687G>A , CM000670.2:g.22148687G>A | GRCh38 |
| NC_000008.10:g.22006200G>A , CM000670.1:g.22006200G>A | GRCh37 |
| NC_000008.9:g.22062145G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139278.4:c.1120C>T MANE Select | NP_644807.1:p.His374Tyr |
| ENST00000306317.7:c.1120C>T MANE Select | ENSP00000302297.2:p.His374Tyr |
| NM_139278.2:c.1120C>T | NP_644807.1:p.His374Tyr |
| NM_139278.3:c.1120C>T | NP_644807.1:p.His374Tyr |
| ENST00000306317.6:c.1120C>T | ENSP00000302297.2:p.His374Tyr |
| ENST00000424267.6:c.1048C>T | ENSP00000399121.2:p.His350Tyr |
| ENST00000520124.5:n.2563C>T |