Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280235G= , CM000672.2:g.80280235G= | GRCh38 |
| NC_000010.10:g.82039991G= , CM000672.1:g.82039991G= | GRCh37 |
| NC_000010.9:g.82029971G= | NCBI36 |
| NG_008083.1:g.14444C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.487C= MANE Select | ENSP00000361287.3:p.Arg163= | |
| ENST00000372213.7:c.487C= | ENSP00000361287.3:p.Arg163= | |
| ENST00000455001.1:c.298C= | ENSP00000414961.1:p.Arg100= | |
| NM_000429.2:c.487C= | NP_000420.1:p.Arg163= | |
| XM_005269842.3:c.487C= | XP_005269899.1:p.Arg163= | |
| XM_005269843.3:c.364C= | XP_005269900.1:p.Arg122= | |
| NM_000429.3:c.487C= MANE Select | NP_000420.1:p.Arg163= |