Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942971A= , CM000678.2:g.67942971A= | GRCh38 |
| NC_000016.9:g.67976874A= , CM000678.1:g.67976874A= | GRCh37 |
| NC_000016.8:g.66534375A= | NCBI36 |
| NG_009778.1:g.6142T= | |
| NG_033098.1:g.30724T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.317T= MANE Select | ENSP00000264005.5:p.Val106= | |
| ENST00000264005.9:c.317T= | ENSP00000264005.5:p.Val106= | |
| ENST00000570369.5:c.45T= | ||
| ENST00000570980.1:c.101T= | ENSP00000464651.1:p.Val34= | |
| ENST00000575277.1:n.95T= | ||
| ENST00000575467.5:c.*12T= | ENSP00000460653.1:n.*12T= | |
| NM_000229.1:c.317T= | NP_000220.1:p.Val106= | |
| NM_000229.2:c.317T= MANE Select | NP_000220.1:p.Val106= |