Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64496512G= , CM000679.2:g.64496512G= | GRCh38 |
| NC_000017.10:g.62492630G= , CM000679.1:g.62492630G= | GRCh37 |
| NC_000017.9:g.59923092G= | NCBI36 |
| NG_013029.1:g.5555C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539111.7:c.457C= MANE Select | ENSP00000442563.2:p.Leu153= | |
| ENST00000585104.2:n.428C= | ||
| ENST00000671755.1:c.428C= | ||
| ENST00000673460.1:c.428C= | ||
| ENST00000539111.6:c.457C= | ENSP00000442563.2:p.Leu153= | |
| ENST00000578997.1:c.224+20C= | ENSP00000464389.1:n.224+20C= | |
| ENST00000585141.5:n.508C= | ||
| NM_007215.3:c.457C= | NP_009146.2:p.Leu153= | |
| XM_006721651.2:c.457C= | XP_006721714.1:p.Leu153= | |
| XR_243630.1:n.508C= | ||
| XR_934357.1:n.508C= | ||
| XR_934358.1:n.508C= | ||
| NM_007215.4:c.457C= MANE Select | NP_009146.2:p.Leu153= |