Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751618C= , CM000673.2:g.64751618C= | GRCh38 |
| NC_000011.9:g.64519090C= , CM000673.1:g.64519090C= | GRCh37 |
| NC_000011.8:g.64275666C= | NCBI36 |
| NG_013018.1:g.14098G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1806G= MANE Select | ENSP00000164139.3:p.Arg602= | |
| ENST00000164139.3:c.1806G= | ENSP00000164139.3:p.Arg602= | |
| ENST00000377432.7:c.1542G= | ENSP00000366650.3:p.Arg514= | |
| ENST00000462303.1:n.130G= | ||
| NM_001164716.1:c.1542G= | NP_001158188.1:p.Arg514= | |
| NM_005609.2:c.1806G= | NP_005600.1:p.Arg602= | |
| NM_005609.3:c.1806G= | NP_005600.1:p.Arg602= | |
| NM_005609.4:c.1806G= MANE Select | NP_005600.1:p.Arg602= |