Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173108771G>A , CM000667.2:g.173108771G>A | GRCh38 |
| NC_000005.9:g.172535774G>A , CM000667.1:g.172535774G>A | GRCh37 |
| NC_000005.8:g.172468380G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153607.3:c.1370G>A MANE Select | NP_705835.2:p.Arg457Gln |
| ENST00000296953.6:c.1370G>A MANE Select | ENSP00000296953.2:p.Arg457Gln |
| NM_153607.2:c.1370G>A | NP_705835.2:p.Arg457Gln |
| ENST00000520464.1:n.1647G>A | |
| XM_005265821.3:c.1346G>A | XP_005265878.1:p.Arg449Gln |
| XM_006714822.2:c.1370G>A | XP_006714885.1:p.Arg457Gln |
| XM_006714822.4:c.1370G>A | XP_006714885.1:p.Arg457Gln |
| XM_011534441.1:c.1370G>A | XP_011532743.1:p.Arg457Gln |
| XM_011534442.1:c.1346G>A | XP_011532744.1:p.Arg449Gln |