Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286448C>A , CM000667.2:g.10286448C>A | GRCh38 |
| NC_000005.9:g.10286560C>A , CM000667.1:g.10286560C>A | GRCh37 |
| NC_000005.8:g.10339560C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.372G>T MANE Select | ENSP00000296658.3:p.Gln124His | |
| ENST00000296658.3:c.372G>T | ENSP00000296658.3:p.Gln124His | |
| ENST00000506821.1:n.626G>T | ||
| ENST00000510532.5:n.440G>T | ||
| ENST00000511963.5:n.480G>T | ||
| NM_138809.3:c.372G>T | NP_620164.1:p.Gln124His | |
| NM_138809.4:c.372G>T MANE Select | NP_620164.1:p.Gln124His |