Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062805G= , CM000664.2:g.189062805G= | GRCh38 |
| NC_000002.11:g.189927531G= , CM000664.1:g.189927531G= | GRCh37 |
| NC_000002.10:g.189635776G= | NCBI36 |
| NG_011799.1:g.122075C= | |
| NG_011799.2:g.122075C= | |
| NG_011799.3:g.167497C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1977+60C= MANE Select | ENSP00000364000.3:n.1977+60C= | |
| ENST00000374866.7:c.1977+60C= | ENSP00000364000.3:n.1977+60C= | |
| ENST00000470524.2:n.83+60C= | ||
| ENST00000618828.1:c.816+60C= | ENSP00000482184.1:n.816+60C= | |
| NM_000393.3:c.1977+60C= | NP_000384.2:n.1977+60C= | |
| XM_011510573.1:c.1839+60C= | XP_011508875.1:n.1839+60C= | |
| NM_000393.4:c.1977+60C= | NP_000384.2:n.1977+60C= | |
| XM_011510573.3:c.1839+60C= | XP_011508875.1:n.1839+60C= | |
| NM_000393.5:c.1977+60C= MANE Select | NP_000384.2:n.1977+60C= |