Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589644G>A , CM000672.2:g.110589644G>A | GRCh38 |
| NC_000010.10:g.112349402G>A , CM000672.1:g.112349402G>A | GRCh37 |
| NC_000010.9:g.112339392G>A | NCBI36 |
| NG_012217.1:g.26954G>A , LRG_774:g.26954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1245G>A | ||
| ENST00000684988.1:n.1990G>A | ||
| ENST00000687823.1:n.1259G>A | ||
| ENST00000689932.1:n.3408G>A | ||
| ENST00000691297.1:n.1478G>A | ||
| ENST00000691527.1:n.2148G>A | ||
| ENST00000692792.1:n.1464G>A | ||
| ENST00000361804.5:c.1345G>A MANE Select | ENSP00000354720.5:p.Glu449Lys | |
| ENST00000361804.4:c.1345G>A | ENSP00000354720.4:p.Glu449Lys | |
| NM_005445.3:c.1345G>A , LRG_774t1:c.1345G>A | NP_005436.1:p.Glu449Lys | |
| NM_005445.4:c.1345G>A MANE Select | NP_005436.1:p.Glu449Lys |