Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942973A= , CM000678.2:g.67942973A= | GRCh38 |
| NC_000016.9:g.67976876A= , CM000678.1:g.67976876A= | GRCh37 |
| NC_000016.8:g.66534377A= | NCBI36 |
| NG_009778.1:g.6140T= | |
| NG_033098.1:g.30722T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.315T= MANE Select | ENSP00000264005.5:p.Val105= | |
| ENST00000264005.9:c.315T= | ENSP00000264005.5:p.Val105= | |
| ENST00000570369.5:c.43T= | ||
| ENST00000570980.1:c.99T= | ENSP00000464651.1:p.Val33= | |
| ENST00000575277.1:n.93T= | ||
| ENST00000575467.5:c.*10T= | ENSP00000460653.1:n.*10T= | |
| NM_000229.1:c.315T= | NP_000220.1:p.Val105= | |
| NM_000229.2:c.315T= MANE Select | NP_000220.1:p.Val105= |