Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23049216C>T , CM000682.2:g.23049216C>T | GRCh38 |
| NC_000020.10:g.23029853C>T , CM000682.1:g.23029853C>T | GRCh37 |
| NC_000020.9:g.22977853C>T | NCBI36 |
| NG_012027.1:g.5449G>A , LRG_168:g.5449G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.289G>A MANE Select | NP_000352.1:p.Gly97Ser |
| ENST00000377103.3:c.289G>A MANE Select | ENSP00000366307.2:p.Gly97Ser |
| NM_000361.2:c.289G>A , LRG_168t1:c.289G>A | NP_000352.1:p.Gly97Ser |
| ENST00000377103.2:c.289G>A | ENSP00000366307.2:p.Gly97Ser |