Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950953G>A , CM000674.2:g.49950953G>A | GRCh38 |
| NC_000012.11:g.50344736G>A , CM000674.1:g.50344736G>A | GRCh37 |
| NC_000012.10:g.48631003G>A | NCBI36 |
| NG_008913.1:g.5213G>A , LRG_717:g.5213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.123G>A MANE Select | ENSP00000199280.3:p.Val41= | |
| ENST00000199280.3:c.123G>A | ENSP00000199280.3:p.Val41= | |
| ENST00000550862.1:c.123G>A | ENSP00000450022.1:p.Val41= | |
| ENST00000551526.5:c.123G>A | ENSP00000447148.1:p.Val41= | |
| NM_000486.5:c.123G>A , LRG_717t1:c.123G>A | NP_000477.1:p.Val41= | |
| NM_000486.6:c.123G>A MANE Select | NP_000477.1:p.Val41= |