Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23375730C>A , CM000676.2:g.23375730C>A | GRCh38 |
| NC_000014.8:g.23844939C>A , CM000676.1:g.23844939C>A | GRCh37 |
| NC_000014.7:g.22914779C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397242.3:c.336C>A MANE Select | ENSP00000380417.2:p.Gly112= | |
| ENST00000329715.2:c.384C>A | ENSP00000328111.2:p.Gly128= | |
| ENST00000397242.2:c.336C>A | ENSP00000380417.2:p.Gly112= | |
| NM_022789.3:c.384C>A | NP_073626.1:p.Gly128= | |
| NM_172314.1:c.336C>A | NP_758525.1:p.Gly112= |