Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14132556G>A , CM000665.2:g.14132556G>A | GRCh38 |
| NC_000003.11:g.14174056G>A , CM000665.1:g.14174056G>A | GRCh37 |
| NC_000003.10:g.14149057G>A | NCBI36 |
| NG_008975.1:g.12617G>A , LRG_435:g.12617G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.403G>A MANE Select | NP_077310.1:p.Glu135Lys |
| ENST00000306077.5:c.403G>A MANE Select | ENSP00000303992.5:p.Glu135Lys |
| NM_024334.2:c.403G>A , LRG_435t1:c.403G>A | NP_077310.1:p.Glu135Lys |
| ENST00000306077.4:c.403G>A | ENSP00000303992.4:p.Glu135Lys |
| ENST00000432444.1:c.*433G>A | ENSP00000395617.1:n.*433G>A |
| ENST00000432444.2:c.*433G>A | ENSP00000395617.1:n.*433G>A |
| XM_011534109.1:c.298G>A | XP_011532411.1:p.Glu100Lys |
| XM_017007176.2:c.298G>A | XP_016862665.1:p.Glu100Lys |