Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435629C= , CM000672.2:g.70435629C= | GRCh38 |
| NC_000010.10:g.72195385C= , CM000672.1:g.72195385C= | GRCh37 |
| NC_000010.9:g.71865391C= | NCBI36 |
| NG_012448.1:g.11081G= | |
| NG_012448.2:g.17320G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018055.5:c.548G= MANE Select | NP_060525.3:p.Arg183= |
| ENST00000287139.8:c.548G= MANE Select | ENSP00000287139.3:p.Arg183= |
| NM_001329906.1:c.149G= | NP_001316835.1:p.Arg50= |
| NM_001329906.2:c.149G= | NP_001316835.1:p.Arg50= |
| NM_018055.4:c.548G= | NP_060525.3:p.Arg183= |
| ENST00000287139.7:c.548G= | ENSP00000287139.3:p.Arg183= |
| ENST00000414871.1:c.383G= | ENSP00000394468.1:p.Arg128= |
| XM_024448028.1:c.149G= | XP_024303796.1:p.Arg50= |