Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993219C= , CM000678.2:g.30993219C= | GRCh38 |
| NC_000016.9:g.31004540C= , CM000678.1:g.31004540C= | GRCh37 |
| NC_000016.8:g.30912041C= | NCBI36 |
| NG_041829.1:g.22290G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.697G= MANE Select | ENSP00000215095.5:p.Glu233= | |
| ENST00000565419.2:c.697G= | ENSP00000455899.1:p.Glu233= | |
| ENST00000215095.9:c.697G= | ENSP00000215095.5:p.Glu233= | |
| ENST00000565419.1:c.697G= | ENSP00000455899.1:p.Glu233= | |
| ENST00000569638.5:c.445G= | ENSP00000457067.1:p.Glu149= | |
| NM_052874.4:c.697G= | NP_443106.1:p.Glu233= | |
| XM_017022893.1:c.679G= | XP_016878382.1:p.Glu227= | |
| NM_052874.5:c.697G= MANE Select | NP_443106.1:p.Glu233= |