Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940374C= , CM000678.2:g.67940374C= | GRCh38 |
| NC_000016.9:g.67974277C= , CM000678.1:g.67974277C= | GRCh37 |
| NC_000016.8:g.66531778C= | NCBI36 |
| NG_009778.1:g.8739G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.853G= MANE Select | ENSP00000264005.5:p.Glu285= | |
| ENST00000264005.9:c.853G= | ENSP00000264005.5:p.Glu285= | |
| ENST00000570369.5:c.156-300G= | ||
| ENST00000570980.1:c.637G= | ENSP00000464651.1:p.Glu213= | |
| ENST00000573538.5:c.591G= | ENSP00000463220.1:n.591G= | |
| NM_000229.1:c.853G= | NP_000220.1:p.Glu285= | |
| NM_000229.2:c.853G= MANE Select | NP_000220.1:p.Glu285= |