Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519058C>T , CM000674.2:g.52519058C>T | GRCh38 |
| NC_000012.11:g.52912842C>T , CM000674.1:g.52912842C>T | GRCh37 |
| NC_000012.10:g.51199109C>T | NCBI36 |
| NG_008297.1:g.6402G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.658G>A MANE Select | NP_000415.2:p.Glu220Lys |
| ENST00000252242.9:c.658G>A MANE Select | ENSP00000252242.4:p.Glu220Lys |
| NM_000424.3:c.658G>A | NP_000415.2:p.Glu220Lys |
| ENST00000252242.8:c.658G>A | ENSP00000252242.4:p.Glu220Lys |
| ENST00000549420.1:c.328G>A | ENSP00000447209.1:p.Glu110Lys |
| ENST00000551013.1:n.186G>A | |
| ENST00000551188.5:c.60G>A | |
| ENST00000552629.5:n.756G>A |