Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49284057G>A , CM000665.2:g.49284057G>A | GRCh38 |
| NC_000003.11:g.49321490G>A , CM000665.1:g.49321490G>A | GRCh37 |
| NC_000003.10:g.49296494G>A | NCBI36 |
| NG_030370.1:g.61047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265560.9:c.2470C>T MANE Select | ENSP00000265560.4:p.His824Tyr | |
| ENST00000265560.8:c.2470C>T | ENSP00000265560.4:p.His824Tyr | |
| ENST00000351842.8:c.2329C>T | ENSP00000341028.4:p.His777Tyr | |
| ENST00000431357.1:c.1685C>T | ||
| ENST00000485450.5:n.2984C>T | ||
| NM_003363.3:c.2470C>T | NP_003354.2:p.His824Tyr | |
| NM_199443.2:c.2329C>T | NP_955475.1:p.His777Tyr | |
| NM_003363.4:c.2470C>T MANE Select | NP_003354.2:p.His824Tyr | |
| NM_199443.3:c.2329C>T | NP_955475.1:p.His777Tyr |