Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62614818G>A , CM000673.2:g.62614818G>A | GRCh38 |
| NC_000011.9:g.62382290G>A , CM000673.1:g.62382290G>A | GRCh37 |
| NC_000011.8:g.62138866G>A | NCBI36 |
| NG_009845.1:g.7078G>A | |
| NG_031863.1:g.12358C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000327.4:c.1035G>A MANE Select | NP_000318.2:p.Lys345= |
| ENST00000278833.4:c.1035G>A MANE Select | ENSP00000278833.3:p.Lys345= |
| NM_000327.3:c.1035G>A | NP_000318.1:p.Lys345= |
| ENST00000278833.3:c.1035G>A | ENSP00000278833.3:p.Lys345= |
| ENST00000534093.5:c.*89G>A | ENSP00000432151.1:n.*89G>A |