Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21012603C>A , CM000664.2:g.21012603C>A | GRCh38 |
| NG_011793.1:g.36471G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000384.3:c.4265G>T MANE Select | NP_000375.3:p.Cys1422Phe |
| ENST00000233242.5:c.4265G>T MANE Select | ENSP00000233242.1:p.Cys1422Phe |
| NM_000384.2:c.4265G>T | NP_000375.2:p.Cys1422Phe |
| ENST00000616098.4:c.4265G>T | ENSP00000477990.1:p.Cys1422Phe |
| ENST00000673739.1:c.3979G>T | ENSP00000501110.1:n.3979G>T |
| ENST00000673739.2:c.*3571G>T | ENSP00000501110.2:n.*3571G>T |
| XM_011532809.1:c.4265G>T | XP_011531111.1:p.Cys1422Phe |