Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781935G= , CM000672.2:g.94781935G= | GRCh38 |
| NC_000010.10:g.96541692G= , CM000672.1:g.96541692G= | GRCh37 |
| NC_000010.9:g.96531682G= | NCBI36 |
| NG_008384.2:g.24230G= | |
| NG_008384.3:g.24255G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.757G= MANE Select | ENSP00000360372.3:p.Glu253= | |
| ENST00000645461.1:n.1810G= | ||
| ENST00000371321.7:c.757G= | ENSP00000360372.3:p.Glu253= | |
| ENST00000464755.1:c.1520G= | ENSP00000483243.1:n.1520G= | |
| NM_000769.2:c.757G= | NP_000760.1:p.Glu253= | |
| NM_000769.4:c.757G= MANE Select | NP_000760.1:p.Glu253= |