Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940060C= , CM000678.2:g.67940060C= | GRCh38 |
| NC_000016.9:g.67973963C= , CM000678.1:g.67973963C= | GRCh37 |
| NC_000016.8:g.66531464C= | NCBI36 |
| NG_009778.1:g.9053G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1167G= MANE Select | ENSP00000264005.5:p.Gln389= | |
| ENST00000264005.9:c.1167G= | ENSP00000264005.5:p.Gln389= | |
| ENST00000570369.5:c.170G= | ||
| ENST00000573538.5:c.905G= | ENSP00000463220.1:n.905G= | |
| NM_000229.1:c.1167G= | NP_000220.1:p.Gln389= | |
| NM_000229.2:c.1167G= MANE Select | NP_000220.1:p.Gln389= |