Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30204995G= , CM000679.2:g.30204995G= | GRCh38 |
| NC_000017.10:g.28532013G= , CM000679.1:g.28532013G= | GRCh37 |
| NC_000017.9:g.25556139G= | NCBI36 |
| NG_011747.2:g.35942C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.1651-1656C= MANE Select | ENSP00000498537.1:n.1651-1656C= | |
| ENST00000261707.7:c.1651-1656C= | ENSP00000261707.3:n.1651-1656C= | |
| ENST00000394821.2:c.1651-1656C= | ENSP00000378298.2:n.1651-1656C= | |
| ENST00000401766.6:c.1651-1656C= | ENSP00000385822.2:n.1651-1656C= | |
| ENST00000579221.5:c.292-1656C= | ||
| NM_001045.5:c.1651-1656C= | NP_001036.1:n.1651-1656C= | |
| NM_001045.6:c.1651-1656C= MANE Select | NP_001036.1:n.1651-1656C= |