Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852842T= , CM000672.2:g.94852842T= | GRCh38 |
| NC_000010.10:g.96612599T= , CM000672.1:g.96612599T= | GRCh37 |
| NC_000010.9:g.96602589T= | NCBI36 |
| NG_008384.2:g.95137T= | |
| NG_008384.3:g.95162T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1401T= MANE Select | ENSP00000360372.3:p.Leu467= | |
| ENST00000645461.1:n.2312T= | ||
| ENST00000371321.7:c.1401T= | ENSP00000360372.3:p.Leu467= | |
| ENST00000464755.1:c.2164T= | ENSP00000483243.1:n.2164T= | |
| NM_000769.2:c.1401T= | NP_000760.1:p.Leu467= | |
| NM_000769.4:c.1401T= MANE Select | NP_000760.1:p.Leu467= |