Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33129971C= , CM000665.2:g.33129971C= | GRCh38 |
| NC_000003.11:g.33171463C= , CM000665.1:g.33171463C= | GRCh37 |
| NC_000003.10:g.33146467C= | NCBI36 |
| NG_008122.1:g.21014C= , LRG_4:g.21014C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.826C= MANE Select | ENSP00000323696.5:p.Gln276= | |
| ENST00000320954.10:c.826C= | ENSP00000323696.5:p.Gln276= | |
| ENST00000449224.1:c.794-2584C= | ENSP00000409997.1:n.794-2584C= | |
| ENST00000485310.1:n.420C= | ||
| NM_006371.4:c.826C= , LRG_4t1:c.826C= | NP_006362.1:p.Gln276= | |
| NM_006371.5:c.826C= MANE Select | NP_006362.1:p.Gln276= | |
| NM_001393363.1:c.826C= | NP_001380292.1:p.Gln276= | |
| NM_001393364.1:c.794-2584C= | NP_001380293.1:n.794-2584C= | |
| NM_001393365.1:c.676C= | NP_001380294.1:p.Gln226= |