Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543450C>A , CM000679.2:g.42543450C>A | GRCh38 |
| NC_000017.10:g.40695468C>A , CM000679.1:g.40695468C>A | GRCh37 |
| NC_000017.9:g.37948994C>A | NCBI36 |
| NG_011552.1:g.12518C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1444C>A MANE Select | ENSP00000225927.1:p.Arg482= | |
| ENST00000225927.6:c.1444C>A | ENSP00000225927.1:p.Arg482= | |
| ENST00000591587.1:c.782C>A | ENSP00000467836.1:n.782C>A | |
| ENST00000592454.1:c.483C>A | ||
| NM_000263.3:c.1444C>A | NP_000254.2:p.Arg482= | |
| XM_006721920.2:c.613C>A | XP_006721983.1:p.Arg205= | |
| XM_011524840.1:c.445C>A | XP_011523142.1:p.Arg149= | |
| XM_017024687.1:c.613C>A | XP_016880176.1:p.Arg205= | |
| XM_024450771.1:c.1501C>A | XP_024306539.1:p.Arg501= | |
| XM_024450772.1:c.445C>A | XP_024306540.1:p.Arg149= | |
| NM_000263.4:c.1444C>A MANE Select | NP_000254.2:p.Arg482= |