Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500380A= , CM000663.2:g.45500380A= | GRCh38 |
| NC_000001.10:g.45966052A= , CM000663.1:g.45966052A= | GRCh37 |
| NC_000001.9:g.45738639A= | NCBI36 |
| NG_013378.1:g.5197A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.48A= MANE Select | ENSP00000383840.4:p.Leu16= | |
| ENST00000401061.8:c.48A= | ENSP00000383840.4:p.Leu16= | |
| ENST00000616135.1:c.-124A= | ENSP00000478859.1:n.-124A= | |
| NM_015506.2:c.48A= | NP_056321.2:p.Leu16= | |
| XM_005270724.3:c.48A= | XP_005270781.1:p.Leu16= | |
| XM_011541204.1:c.-175A= | XP_011539506.1:n.-175A= | |
| NM_001330540.1:c.-175A= | NP_001317469.1:n.-175A= | |
| XM_005270724.5:c.48A= | XP_005270781.1:p.Leu16= | |
| NM_015506.3:c.48A= MANE Select | NP_056321.2:p.Leu16= | |
| NM_001330540.2:c.-175A= | NP_001317469.1:n.-175A= |