Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130913A= , CM000665.2:g.14130913A= | GRCh38 |
| NC_000003.11:g.14172413A= , CM000665.1:g.14172413A= | GRCh37 |
| NC_000003.10:g.14147414A= | NCBI36 |
| NG_008975.1:g.10974A= , LRG_435:g.10974A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432444.2:c.*284A= | ENSP00000395617.1:n.*284A= | |
| ENST00000306077.5:c.254A= MANE Select | ENSP00000303992.5:p.Glu85= | |
| ENST00000306077.4:c.254A= | ENSP00000303992.4:p.Glu85= | |
| ENST00000432444.1:c.*284A= | ENSP00000395617.1:n.*284A= | |
| NM_024334.2:c.254A= , LRG_435t1:c.254A= | NP_077310.1:p.Glu85= | |
| XM_011534109.1:c.149A= | XP_011532411.1:p.Glu50= | |
| XM_017007176.2:c.149A= | XP_016862665.1:p.Glu50= | |
| NM_024334.3:c.254A= MANE Select | NP_077310.1:p.Glu85= |