Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26693154C>A , CM000664.2:g.26693154C>A | GRCh38 |
| NC_000002.11:g.26916022C>A , CM000664.1:g.26916022C>A | GRCh37 |
| NC_000002.10:g.26769526C>A | NCBI36 |
| NG_033884.1:g.5442C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302909.4:c.279C>A MANE Select | ENSP00000306275.3:p.Thr93= | |
| ENST00000302909.3:c.279C>A | ENSP00000306275.3:p.Thr93= | |
| ENST00000620977.1:c.-91C>A | ENSP00000483136.1:n.-91C>A | |
| NM_002246.2:c.279C>A | NP_002237.1:p.Thr93= | |
| NM_002246.3:c.279C>A MANE Select | NP_002237.1:p.Thr93= |