Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071146A= , CM000664.2:g.29071146A= | GRCh38 |
| NC_000002.11:g.29294012A= , CM000664.1:g.29294012A= | GRCh37 |
| NC_000002.10:g.29147516A= | NCBI36 |
| NG_021427.1:g.8116T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3116T= MANE Select | ENSP00000332809.4:p.Leu1039= | |
| ENST00000331664.5:c.3116T= | ENSP00000332809.4:p.Leu1039= | |
| NM_001029883.2:c.3116T= | NP_001025054.1:p.Leu1039= | |
| XM_011532826.1:c.3116T= | XP_011531128.1:p.Leu1039= | |
| XR_939901.1:n.185+1979A= | ||
| XR_939902.1:n.173+1991A= | ||
| NM_001029883.3:c.3116T= MANE Select | NP_001025054.1:p.Leu1039= |