Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130912G= , CM000665.2:g.14130912G= | GRCh38 |
| NC_000003.11:g.14172412G= , CM000665.1:g.14172412G= | GRCh37 |
| NC_000003.10:g.14147413G= | NCBI36 |
| NG_008975.1:g.10973G= , LRG_435:g.10973G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.253G= MANE Select | NP_077310.1:p.Glu85= |
| ENST00000306077.5:c.253G= MANE Select | ENSP00000303992.5:p.Glu85= |
| NM_024334.2:c.253G= , LRG_435t1:c.253G= | NP_077310.1:p.Glu85= |
| ENST00000306077.4:c.253G= | ENSP00000303992.4:p.Glu85= |
| ENST00000432444.1:c.*283G= | ENSP00000395617.1:n.*283G= |
| ENST00000432444.2:c.*283G= | ENSP00000395617.1:n.*283G= |
| XM_011534109.1:c.148G= | XP_011532411.1:p.Glu50= |
| XM_017007176.2:c.148G= | XP_016862665.1:p.Glu50= |