Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940426C= , CM000678.2:g.67940426C= | GRCh38 |
| NC_000016.9:g.67974329C= , CM000678.1:g.67974329C= | GRCh37 |
| NC_000016.8:g.66531830C= | NCBI36 |
| NG_009778.1:g.8687G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.801G= MANE Select | ENSP00000264005.5:p.Gln267= | |
| ENST00000264005.9:c.801G= | ENSP00000264005.5:p.Gln267= | |
| ENST00000570369.5:c.156-352G= | ||
| ENST00000570980.1:c.585G= | ENSP00000464651.1:p.Gln195= | |
| ENST00000573538.5:c.539G= | ENSP00000463220.1:n.539G= | |
| NM_000229.1:c.801G= | NP_000220.1:p.Gln267= | |
| NM_000229.2:c.801G= MANE Select | NP_000220.1:p.Gln267= |