Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956037A= , CM000670.2:g.19956037A= | GRCh38 |
| NC_000008.10:g.19813548A= , CM000670.1:g.19813548A= | GRCh37 |
| NC_000008.9:g.19857828A= | NCBI36 |
| NG_008855.1:g.21967A= | |
| NG_008855.2:g.59321A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.972A= MANE Select | ENSP00000497642.1:p.Arg324= | |
| ENST00000650478.1:c.33A= | ENSP00000497560.1:p.Arg11= | |
| ENST00000311322.8:c.972A= | ENSP00000309757.6:p.Arg324= | |
| NM_000237.2:c.972A= | NP_000228.1:p.Arg324= | |
| NM_000237.3:c.972A= MANE Select | NP_000228.1:p.Arg324= |