Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44275389G= , CM000673.2:g.44275389G= | GRCh38 |
| NC_000011.9:g.44296939G= , CM000673.1:g.44296939G= | GRCh37 |
| NC_000011.8:g.44253515G= | NCBI36 |
| NG_015809.1:g.39778C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021926.4:c.736C= MANE Select | NP_068745.2:p.Gln246= |
| ENST00000652299.1:c.736C= MANE Select | ENSP00000498217.1:p.Gln246= |
| NM_021926.3:c.736C= | NP_068745.2:p.Gln246= |
| ENST00000329255.3:c.736C= | ENSP00000332744.3:p.Gln246= |
| XM_011520264.1:c.736C= | XP_011518566.1:p.Gln246= |
| XM_011520265.1:c.214C= | XP_011518567.1:p.Gln72= |
| XM_011520266.1:c.214C= | XP_011518568.1:p.Gln72= |