Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107950251G>A , CM000666.2:g.107950251G>A | GRCh38 |
| NC_000004.11:g.108871407G>A , CM000666.1:g.108871407G>A | GRCh37 |
| NC_000004.10:g.109090856G>A | NCBI36 |
| NG_007961.1:g.23691G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.1463G>A MANE Select | NP_898898.1:p.Arg488Gln |
| ENST00000332884.11:c.1463G>A MANE Select | ENSP00000333212.6:p.Arg488Gln |
| NM_183075.2:c.1463G>A | NP_898898.1:p.Arg488Gln |
| ENST00000332884.10:c.1463G>A | ENSP00000333212.6:p.Arg488Gln |
| ENST00000508453.1:c.836G>A | ENSP00000423667.1:p.Arg279Gln |
| XM_005262717.2:c.1517G>A | XP_005262774.1:p.Arg506Gln |
| XM_005262720.2:c.827G>A | XP_005262777.1:p.Arg276Gln |
| XR_001741783.1:n.155+39317C>T | |
| XR_001741784.1:n.530+28469C>T |