Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62614370G>A , CM000673.2:g.62614370G>A | GRCh38 |
| NC_000011.9:g.62381842G>A , CM000673.1:g.62381842G>A | GRCh37 |
| NC_000011.8:g.62138418G>A | NCBI36 |
| NG_009845.1:g.6630G>A | |
| NG_031863.1:g.12806C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000327.4:c.703G>A MANE Select | NP_000318.2:p.Ala235Thr |
| ENST00000278833.4:c.703G>A MANE Select | ENSP00000278833.3:p.Ala235Thr |
| NM_000327.3:c.703G>A | NP_000318.1:p.Ala235Thr |
| ENST00000278833.3:c.703G>A | ENSP00000278833.3:p.Ala235Thr |
| ENST00000525801.1:c.75G>A | ENSP00000433566.1:p.Thr25= |
| ENST00000525947.1:c.75G>A | ENSP00000432983.1:p.Thr25= |
| ENST00000534093.5:c.75G>A | ENSP00000432151.1:p.Thr25= |