Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99851548G>A , CM000672.2:g.99851548G>A | GRCh38 |
| NC_000010.10:g.101611305G>A , CM000672.1:g.101611305G>A | GRCh37 |
| NC_000010.9:g.101601295G>A | NCBI36 |
| NG_011798.1:g.73843G>A | |
| NG_011798.2:g.73951G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4555G>A MANE Select | ENSP00000497274.1:p.Glu1519Lys | |
| ENST00000648523.1:c.625G>A | ||
| ENST00000370449.8:c.4555G>A | ENSP00000359478.4:p.Glu1519Lys | |
| NM_000392.4:c.4555G>A | NP_000383.1:p.Glu1519Lys | |
| XM_006717630.2:c.3859G>A | XP_006717693.1:p.Glu1287Lys | |
| NM_000392.5:c.4555G>A MANE Select | NP_000383.2:p.Glu1519Lys | |
| XM_006717630.3:c.3859G>A | XP_006717693.1:p.Glu1287Lys |