Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820333C= , CM000682.2:g.31820333C= | GRCh38 |
| NC_000020.10:g.30408136C= , CM000682.1:g.30408136C= | GRCh37 |
| NC_000020.9:g.29871797C= | NCBI36 |
| NG_012847.1:g.5959C= , LRG_392:g.5959C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033118.4:c.260C= MANE Select | NP_149109.1:p.Ala87= |
| ENST00000375985.5:c.260C= MANE Select | ENSP00000365152.4:p.Ala87= |
| NM_033118.3:c.260C= , LRG_392t1:c.260C= | NP_149109.1:p.Ala87= |
| ENST00000375985.4:c.260C= | ENSP00000365152.4:p.Ala87= |
| ENST00000375994.6:c.260C= | ENSP00000365162.2:p.Ala87= |
| XR_244155.1:n.425C= |