Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665762C= , CM000679.2:g.39665762C= | GRCh38 |
| NC_000017.10:g.37822015C= , CM000679.1:g.37822015C= | GRCh37 |
| NC_000017.9:g.35075541C= | NCBI36 |
| NG_008892.1:g.5417C= , LRG_210:g.5417C= | |
| NG_042278.1:g.2782C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.157C= MANE Select | ENSP00000312624.2:p.Gln53= | |
| ENST00000309889.2:c.157C= | ENSP00000312624.2:p.Gln53= | |
| ENST00000578283.1:c.157C= | ENSP00000462787.1:p.Gln53= | |
| NM_003673.3:c.157C= , LRG_210t1:c.157C= | NP_003664.1:p.Gln53= | |
| NM_003673.4:c.157C= MANE Select | NP_003664.1:p.Gln53= |