Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32857313G>A , CM000668.2:g.32857313G>A | GRCh38 |
| NC_000006.11:g.32825090G>A , CM000668.1:g.32825090G>A | GRCh37 |
| NC_000006.10:g.32933068G>A | NCBI36 |
| NG_011759.1:g.1659C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002800.5:c.179G>A MANE Select | NP_002791.1:p.Arg60His |
| ENST00000374859.3:c.179G>A MANE Select | ENSP00000363993.2:p.Arg60His |
| NM_002800.4:c.179G>A | NP_002791.1:p.Arg60His |
| ENST00000374859.2:c.179G>A | ENSP00000363993.2:p.Arg60His |
| ENST00000395330.5:c.110G>A | ENSP00000378739.1:p.Arg37His |
| ENST00000414474.5:c.110G>A | ENSP00000394363.1:p.Arg37His |
| ENST00000464863.1:n.1318G>A | |
| ENST00000467593.1:n.160G>A |