Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50153122T>G , CM000676.2:g.50153122T>G | GRCh38 |
| NC_000014.8:g.50619840T>G , CM000676.1:g.50619840T>G | GRCh37 |
| NC_000014.7:g.49689590T>G | NCBI36 |
| NG_051073.1:g.83572A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216373.10:c.2109A>C MANE Select | ENSP00000216373.5:p.Glu703Asp | |
| ENST00000216373.9:c.2109A>C | ENSP00000216373.5:p.Glu703Asp | |
| ENST00000543680.5:c.2010A>C | ENSP00000445328.1:p.Glu670Asp | |
| NM_006939.2:c.2109A>C | NP_008870.2:p.Glu703Asp | |
| XM_005268021.1:c.1929A>C | XP_005268078.1:p.Glu643Asp | |
| XM_011537103.1:c.2070A>C | XP_011535405.1:p.Glu690Asp | |
| XM_011537104.1:c.2109A>C | XP_011535406.1:p.Glu703Asp | |
| NM_006939.3:c.2109A>C | NP_008870.2:p.Glu703Asp | |
| NM_006939.4:c.2109A>C MANE Select | NP_008870.2:p.Glu703Asp |