Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993186C= , CM000678.2:g.30993186C= | GRCh38 |
| NC_000016.9:g.31004507C= , CM000678.1:g.31004507C= | GRCh37 |
| NC_000016.8:g.30912008C= | NCBI36 |
| NG_041829.1:g.22323G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.730G= MANE Select | ENSP00000215095.5:p.Glu244= | |
| ENST00000565419.2:c.730G= | ENSP00000455899.1:p.Glu244= | |
| ENST00000215095.9:c.730G= | ENSP00000215095.5:p.Glu244= | |
| ENST00000565419.1:c.730G= | ENSP00000455899.1:p.Glu244= | |
| ENST00000569638.5:c.478G= | ENSP00000457067.1:p.Glu160= | |
| NM_052874.4:c.730G= | NP_443106.1:p.Glu244= | |
| XM_017022893.1:c.712G= | XP_016878382.1:p.Glu238= | |
| NM_052874.5:c.730G= MANE Select | NP_443106.1:p.Glu244= |