Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118307293G>A , CM000673.2:g.118307293G>A | GRCh38 |
| NC_000011.9:g.118178008G>A , CM000673.1:g.118178008G>A | GRCh37 |
| NC_000011.8:g.117683218G>A | NCBI36 |
| NG_007383.1:g.7714G>A , LRG_38:g.7714G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.55G>A MANE Select | ENSP00000354566.4:p.Val19Ile | |
| ENST00000361763.8:c.55G>A | ENSP00000354566.4:p.Val19Ile | |
| ENST00000526146.5:n.154G>A | ||
| ENST00000528435.5:n.161G>A | ||
| ENST00000528600.1:c.55G>A | ENSP00000433975.1:p.Val19Ile | |
| ENST00000529713.5:n.161G>A | ||
| NM_000733.3:c.55G>A , LRG_38t1:c.55G>A | NP_000724.1:p.Val19Ile | |
| NM_000733.4:c.55G>A MANE Select | NP_000724.1:p.Val19Ile |