Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781877A= , CM000672.2:g.94781877A= | GRCh38 |
| NC_000010.10:g.96541634A= , CM000672.1:g.96541634A= | GRCh37 |
| NC_000010.9:g.96531624A= | NCBI36 |
| NG_008384.2:g.24172A= | |
| NG_008384.3:g.24197A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.699A= MANE Select | ENSP00000360372.3:p.Leu233= | |
| ENST00000645461.1:n.1752A= | ||
| ENST00000371321.7:c.699A= | ENSP00000360372.3:p.Leu233= | |
| ENST00000464755.1:c.1462A= | ENSP00000483243.1:n.1462A= | |
| NM_000769.2:c.699A= | NP_000760.1:p.Leu233= | |
| NM_000769.4:c.699A= MANE Select | NP_000760.1:p.Leu233= |