Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098728G= , CM000664.2:g.189098728G= | GRCh38 |
| NC_000002.11:g.189963454G= , CM000664.1:g.189963454G= | GRCh37 |
| NC_000002.10:g.189671699G= | NCBI36 |
| NG_011799.1:g.86152C= | |
| NG_011799.2:g.86152C= | |
| NG_011799.3:g.131574C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.401C= MANE Select | ENSP00000364000.3:p.Ala134= | |
| ENST00000649966.1:c.263C= | ENSP00000496785.1:p.Ala88= | |
| ENST00000374866.7:c.401C= | ENSP00000364000.3:p.Ala134= | |
| ENST00000618828.1:c.-230C= | ENSP00000482184.1:n.-230C= | |
| NM_000393.3:c.401C= | NP_000384.2:p.Ala134= | |
| XM_011510573.1:c.263C= | XP_011508875.1:p.Ala88= | |
| NM_000393.4:c.401C= | NP_000384.2:p.Ala134= | |
| XM_011510573.3:c.263C= | XP_011508875.1:p.Ala88= | |
| NM_000393.5:c.401C= MANE Select | NP_000384.2:p.Ala134= |