Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454515C= , CM000679.2:g.7454515C= | GRCh38 |
| NC_000017.10:g.7357834C= , CM000679.1:g.7357834C= | GRCh37 |
| NC_000017.9:g.7298558C= | NCBI36 |
| NG_008026.1:g.14429C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1039C= MANE Select | ENSP00000304290.2:p.Arg347= | |
| ENST00000306071.6:c.1039C= | ENSP00000304290.2:p.Arg347= | |
| ENST00000536404.6:c.823C= | ENSP00000439209.2:p.Arg275= | |
| ENST00000570557.5:c.702C= | ||
| ENST00000573209.1:n.1983C= | ||
| ENST00000576360.1:c.676C= | ENSP00000459092.1:p.Arg226= | |
| NM_000747.2:c.1039C= | NP_000738.2:p.Arg347= | |
| NM_000747.3:c.1039C= MANE Select | NP_000738.2:p.Arg347= |