Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118356T>A , CM000676.2:g.50118356T>A | GRCh38 |
| NC_000014.8:g.50585074T>A , CM000676.1:g.50585074T>A | GRCh37 |
| NC_000014.7:g.49654824T>A | NCBI36 |
| NG_051073.1:g.118338A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3987A>T MANE Select | NP_008870.2:p.Glu1329Asp |
| ENST00000216373.10:c.3987A>T MANE Select | ENSP00000216373.5:p.Glu1329Asp |
| NM_006939.2:c.3987A>T | NP_008870.2:p.Glu1329Asp |
| NM_006939.3:c.3987A>T | NP_008870.2:p.Glu1329Asp |
| ENST00000216373.9:c.3987A>T | ENSP00000216373.5:p.Glu1329Asp |
| ENST00000543680.5:c.3888A>T | ENSP00000445328.1:p.Glu1296Asp |
| XM_005268021.1:c.3807A>T | XP_005268078.1:p.Glu1269Asp |
| XM_011537103.1:c.3948A>T | XP_011535405.1:p.Glu1316Asp |