Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763457G>A , CM000673.2:g.763457G>A | GRCh38 |
| NC_000011.9:g.763457G>A , CM000673.1:g.763457G>A | GRCh37 |
| NC_000011.8:g.753457G>A | NCBI36 |
| NG_008160.1:g.21026G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006755.2:c.575G>A MANE Select | NP_006746.1:p.Arg192His |
| ENST00000319006.8:c.575G>A MANE Select | ENSP00000321259.3:p.Arg192His |
| NM_006755.1:c.575G>A | NP_006746.1:p.Arg192His |
| ENST00000319006.7:c.575G>A | ENSP00000321259.3:p.Arg192His |
| ENST00000528070.5:c.*573G>A | ENSP00000435042.1:n.*573G>A |
| ENST00000528097.5:c.575G>A | ENSP00000437098.1:p.Arg192His |
| ENST00000530440.1:c.*234G>A | ENSP00000433501.1:n.*234G>A |