Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118404C>A , CM000676.2:g.50118404C>A | GRCh38 |
| NC_000014.8:g.50585122C>A , CM000676.1:g.50585122C>A | GRCh37 |
| NC_000014.7:g.49654872C>A | NCBI36 |
| NG_051073.1:g.118290G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3939G>T MANE Select | NP_008870.2:p.Glu1313Asp |
| ENST00000216373.10:c.3939G>T MANE Select | ENSP00000216373.5:p.Glu1313Asp |
| NM_006939.2:c.3939G>T | NP_008870.2:p.Glu1313Asp |
| NM_006939.3:c.3939G>T | NP_008870.2:p.Glu1313Asp |
| ENST00000216373.9:c.3939G>T | ENSP00000216373.5:p.Glu1313Asp |
| ENST00000543680.5:c.3840G>T | ENSP00000445328.1:p.Glu1280Asp |
| XM_005268021.1:c.3759G>T | XP_005268078.1:p.Glu1253Asp |
| XM_011537103.1:c.3900G>T | XP_011535405.1:p.Glu1300Asp |