Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927685G= , CM000663.2:g.42927685G= | GRCh38 |
| NC_000001.10:g.43393356G= , CM000663.1:g.43393356G= | GRCh37 |
| NC_000001.9:g.43165943G= | NCBI36 |
| NG_008232.1:g.36492C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1198C= MANE Select | ENSP00000416293.2:p.Arg400= | |
| ENST00000674545.1:n.1815C= | ||
| ENST00000674765.1:c.1030-828C= | ENSP00000501811.1:n.1030-828C= | |
| ENST00000675112.1:n.1499C= | ||
| ENST00000676254.1:n.1647C= | ||
| ENST00000426263.7:c.1198C= | ENSP00000416293.2:p.Arg400= | |
| ENST00000475162.3:c.416-707C= | ||
| ENST00000630287.2:c.*513C= | ENSP00000486694.1:n.*513C= | |
| NM_006516.2:c.1198C= | NP_006507.2:p.Arg400= | |
| NM_006516.3:c.1198C= | NP_006507.2:p.Arg400= | |
| NM_006516.4:c.1198C= MANE Select | NP_006507.2:p.Arg400= |