Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942865C= , CM000678.2:g.67942865C= | GRCh38 |
| NC_000016.9:g.67976768C= , CM000678.1:g.67976768C= | GRCh37 |
| NC_000016.8:g.66534269C= | NCBI36 |
| NG_009778.1:g.6248G= | |
| NG_033098.1:g.30830G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.423G= MANE Select | ENSP00000264005.5:p.Leu141= | |
| ENST00000264005.9:c.423G= | ENSP00000264005.5:p.Leu141= | |
| ENST00000570369.5:c.151G= | ||
| ENST00000570980.1:c.207G= | ENSP00000464651.1:p.Leu69= | |
| ENST00000573538.5:c.66G= | ENSP00000463220.1:p.Leu22= | |
| ENST00000573846.1:n.37G= | ||
| ENST00000575277.1:n.201G= | ||
| ENST00000575467.5:c.*118G= | ENSP00000460653.1:n.*118G= | |
| NM_000229.1:c.423G= | NP_000220.1:p.Leu141= | |
| NM_000229.2:c.423G= MANE Select | NP_000220.1:p.Leu141= |