Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124230A= , CM000664.2:g.208124230A= | GRCh38 |
| NC_000002.11:g.208988954A= , CM000664.1:g.208988954A= | GRCh37 |
| NC_000002.10:g.208697199A= | NCBI36 |
| NG_008039.1:g.5360T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.134T= MANE Select | ENSP00000264376.4:p.Leu45= | |
| ENST00000264376.4:c.134T= | ENSP00000264376.4:p.Leu45= | |
| NM_006891.3:c.134T= | NP_008822.2:p.Leu45= | |
| NR_038437.1:n.97+5005A= | ||
| NM_006891.4:c.134T= MANE Select | NP_008822.2:p.Leu45= |