Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10405407C>T , CM000682.2:g.10405407C>T | GRCh38 |
| NC_000020.10:g.10386055C>T , CM000682.1:g.10386055C>T | GRCh37 |
| NC_000020.9:g.10334055C>T | NCBI36 |
| NG_009109.1:g.33812G>A | |
| NG_009109.2:g.33812G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170784.3:c.1553G>A MANE Select | NP_740754.1:p.Arg518His |
| ENST00000347364.7:c.1553G>A MANE Select | ENSP00000246062.4:p.Arg518His |
| NM_018848.3:c.1553G>A | NP_061336.1:p.Arg518His |
| NM_170784.2:c.1553G>A | NP_740754.1:p.Arg518His |
| NR_072977.1:n.931G>A | |
| NR_072977.2:n.914G>A | |
| ENST00000399054.6:c.1553G>A | ENSP00000382008.2:p.Arg518His |
| ENST00000651692.1:c.1553G>A | ENSP00000498849.1:p.Arg518His |
| ENST00000652676.1:n.1197G>A |