Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.79407030G>A , CM000666.2:g.79407030G>A | GRCh38 |
| NC_000004.11:g.80328184G>A , CM000666.1:g.80328184G>A | GRCh37 |
| NC_000004.10:g.80547208G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033214.3:c.1171C>T MANE Select | NP_149991.2:p.His391Tyr |
| ENST00000358842.5:c.1171C>T MANE Select | ENSP00000351706.3:p.His391Tyr |
| NM_033214.2:c.1171C>T | NP_149991.2:p.His391Tyr |
| ENST00000358842.4:c.1171C>T | ENSP00000351706.3:p.His391Tyr |