Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781947A= , CM000672.2:g.94781947A= | GRCh38 |
| NC_000010.10:g.96541704A= , CM000672.1:g.96541704A= | GRCh37 |
| NC_000010.9:g.96531694A= | NCBI36 |
| NG_008384.2:g.24242A= | |
| NG_008384.3:g.24267A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.769A= MANE Select | ENSP00000360372.3:p.Ile257= | |
| ENST00000645461.1:n.1822A= | ||
| ENST00000371321.7:c.769A= | ENSP00000360372.3:p.Ile257= | |
| ENST00000464755.1:c.1532A= | ENSP00000483243.1:n.1532A= | |
| NM_000769.2:c.769A= | NP_000760.1:p.Ile257= | |
| NM_000769.4:c.769A= MANE Select | NP_000760.1:p.Ile257= |