Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220137990G>A , CM000663.2:g.220137990G>A | GRCh38 |
| NC_000001.10:g.220311332G>A , CM000663.1:g.220311332G>A | GRCh37 |
| NC_000001.9:g.218377955G>A | NCBI36 |
| NG_041799.1:g.48878G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018060.4:c.2122G>A MANE Select | NP_060530.3:p.Glu708Lys |
| ENST00000366922.3:c.2122G>A MANE Select | ENSP00000355889.2:p.Glu708Lys |
| NM_018060.3:c.2122G>A | NP_060530.3:p.Glu708Lys |
| ENST00000366922.2:c.2122G>A | ENSP00000355889.2:p.Glu708Lys |
| ENST00000488777.1:n.349G>A |