Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73944473C>T , CM000676.2:g.73944473C>T | GRCh38 |
| NC_000014.8:g.74411176C>T , CM000676.1:g.74411176C>T | GRCh37 |
| NC_000014.7:g.73480929C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286544.5:c.787G>A MANE Select | ENSP00000286544.4:p.Glu263Lys | |
| ENST00000651776.1:c.976G>A | ENSP00000499021.1:p.Glu326Lys | |
| ENST00000286544.3:c.976G>A | ENSP00000286544.3:p.Glu326Lys | |
| NM_152445.2:c.976G>A | NP_689658.2:p.Glu326Lys | |
| XM_011536475.1:c.976G>A | XP_011534777.1:p.Glu326Lys | |
| NM_152445.3:c.787G>A MANE Select | NP_689658.3:p.Glu263Lys | |
| XM_011536475.2:c.976G>A | XP_011534777.1:p.Glu326Lys |