Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310100G= , CM000663.2:g.152310100G= | GRCh38 |
| NC_000001.10:g.152282576G= , CM000663.1:g.152282576G= | GRCh37 |
| NC_000001.9:g.150549200G= | NCBI36 |
| NG_016190.1:g.20104C= , LRG_1028:g.20104C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002016.2:c.4786C= MANE Select | NP_002007.1:p.Gln1596= |
| ENST00000368799.2:c.4786C= MANE Select | ENSP00000357789.1:p.Gln1596= |
| NM_002016.1:c.4786C= , LRG_1028t1:c.4786C= | NP_002007.1:p.Gln1596= |
| ENST00000368799.1:c.4786C= | ENSP00000357789.1:p.Gln1596= |
| XM_011509329.1:c.4786C= | XP_011507631.1:p.Gln1596= |