Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175442902C= , CM000667.2:g.175442902C= | GRCh38 |
| NC_000005.9:g.174869905C= , CM000667.1:g.174869905C= | GRCh37 |
| NC_000005.8:g.174802511C= | NCBI36 |
| NG_011802.1:g.6259G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000794.5:c.198G= MANE Select | NP_000785.1:p.Leu66= |
| ENST00000393752.3:c.198G= MANE Select | ENSP00000377353.1:p.Leu66= |
| NM_000794.3:c.198G= | NP_000785.1:p.Leu66= |
| NM_000794.4:c.198G= | NP_000785.1:p.Leu66= |
| ENST00000393752.2:c.198G= | ENSP00000377353.1:p.Leu66= |