Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162921G= , CM000677.2:g.64162921G= | GRCh38 |
| NC_000015.9:g.64455120G= , CM000677.1:g.64455120G= | GRCh37 |
| NC_000015.8:g.62242173G= | NCBI36 |
| NG_012979.1:g.5235C= , LRG_10:g.5235C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.66C= MANE Select | ENSP00000300026.4:p.Val22= | |
| ENST00000561048.2:n.99C= | ||
| ENST00000680158.1:c.66C= | ENSP00000504873.1:p.Val22= | |
| ENST00000681397.1:c.66C= | ENSP00000506584.1:p.Val22= | |
| ENST00000681658.1:c.30+36C= | ENSP00000505431.1:n.30+36C= | |
| ENST00000300026.3:c.66C= | ENSP00000300026.3:p.Val22= | |
| ENST00000558492.1:n.86C= | ||
| ENST00000561048.1:n.101C= | ||
| NM_000942.4:c.66C= , LRG_10t1:c.66C= | NP_000933.1:p.Val22= | |
| NM_000942.5:c.66C= MANE Select | NP_000933.1:p.Val22= |