Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43937155G>A , CM000684.2:g.43937155G>A | GRCh38 |
| NC_000022.10:g.44333035G>A , CM000684.1:g.44333035G>A | GRCh37 |
| NC_000022.9:g.42664368G>A | NCBI36 |
| NG_008631.1:g.18417G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025225.3:c.862G>A MANE Select | NP_079501.2:p.Glu288Lys |
| ENST00000216180.8:c.862G>A MANE Select | ENSP00000216180.3:p.Glu288Lys |
| NM_025225.2:c.862G>A | NP_079501.2:p.Glu288Lys |
| ENST00000216180.7:c.862G>A | ENSP00000216180.3:p.Glu288Lys |
| ENST00000406117.6:c.*494G>A | ENSP00000384668.2:n.*494G>A |
| ENST00000423180.2:c.850G>A | ENSP00000397987.2:p.Glu284Lys |
| ENST00000497129.1:n.247G>A |