Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162967C>T , CM000677.2:g.64162967C>T | GRCh38 |
| NC_000015.9:g.64455166C>T , CM000677.1:g.64455166C>T | GRCh37 |
| NC_000015.8:g.62242219C>T | NCBI36 |
| NG_012979.1:g.5189G>A , LRG_10:g.5189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.20G>A MANE Select | ENSP00000300026.4:p.Arg7His | |
| ENST00000561048.2:n.53G>A | ||
| ENST00000680158.1:c.20G>A | ENSP00000504873.1:p.Arg7His | |
| ENST00000681397.1:c.20G>A | ENSP00000506584.1:p.Arg7His | |
| ENST00000681658.1:c.20G>A | ENSP00000505431.1:p.Arg7His | |
| ENST00000300026.3:c.20G>A | ENSP00000300026.3:p.Arg7His | |
| ENST00000558492.1:n.40G>A | ||
| ENST00000561048.1:n.55G>A | ||
| NM_000942.4:c.20G>A , LRG_10t1:c.20G>A | NP_000933.1:p.Arg7His | |
| NM_000942.5:c.20G>A MANE Select | NP_000933.1:p.Arg7His |