Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966302C= , CM000670.2:g.37966302C= | GRCh38 |
| NC_000008.10:g.37823820C= , CM000670.1:g.37823820C= | GRCh37 |
| NC_000008.9:g.37942977C= | NCBI36 |
| NG_011936.1:g.5365G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.168G= MANE Select | ENSP00000343782.3:p.Leu56= | |
| ENST00000520341.2:n.296G= | ||
| ENST00000345060.4:c.168G= | ENSP00000343782.3:p.Leu56= | |
| ENST00000614635.1:c.168G= | ENSP00000480325.1:p.Leu56= | |
| NM_000025.2:c.168G= | NP_000016.1:p.Leu56= | |
| NM_000025.3:c.168G= MANE Select | NP_000016.1:p.Leu56= |