Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251206G= , CM000679.2:g.44251206G= | GRCh38 |
| NC_000017.10:g.42328574G= , CM000679.1:g.42328574G= | GRCh37 |
| NC_000017.9:g.39684100G= | NCBI36 |
| NG_007498.1:g.21929C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000342.4:c.2608C= MANE Select | NP_000333.1:p.Arg870= |
| ENST00000262418.12:c.2608C= MANE Select | ENSP00000262418.6:p.Arg870= |
| NM_000342.3:c.2608C= | NP_000333.1:p.Arg870= |
| ENST00000262418.10:c.2608C= | ENSP00000262418.6:p.Arg870= |
| ENST00000399246.3:c.1510C= | ENSP00000382190.3:p.Arg504= |
| XM_005257593.3:c.2413C= | XP_005257650.1:p.Arg805= |
| XM_005257593.5:c.2413C= | XP_005257650.1:p.Arg805= |
| XM_011525129.1:c.2518C= | XP_011523431.1:p.Arg840= |
| XM_011525129.2:c.2518C= | XP_011523431.1:p.Arg840= |