Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942949G= , CM000678.2:g.67942949G= | GRCh38 |
| NC_000016.9:g.67976852G= , CM000678.1:g.67976852G= | GRCh37 |
| NC_000016.8:g.66534353G= | NCBI36 |
| NG_009778.1:g.6164C= | |
| NG_033098.1:g.30746C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.339C= MANE Select | ENSP00000264005.5:p.Leu113= | |
| ENST00000264005.9:c.339C= | ENSP00000264005.5:p.Leu113= | |
| ENST00000570369.5:c.67C= | ||
| ENST00000570980.1:c.123C= | ENSP00000464651.1:p.Leu41= | |
| ENST00000575277.1:n.117C= | ||
| ENST00000575467.5:c.*34C= | ENSP00000460653.1:n.*34C= | |
| NM_000229.1:c.339C= | NP_000220.1:p.Leu113= | |
| NM_000229.2:c.339C= MANE Select | NP_000220.1:p.Leu113= |