Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50153129T>A , CM000676.2:g.50153129T>A | GRCh38 |
| NC_000014.8:g.50619847T>A , CM000676.1:g.50619847T>A | GRCh37 |
| NC_000014.7:g.49689597T>A | NCBI36 |
| NG_051073.1:g.83565A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216373.10:c.2102A>T MANE Select | ENSP00000216373.5:p.Asp701Val | |
| ENST00000216373.9:c.2102A>T | ENSP00000216373.5:p.Asp701Val | |
| ENST00000543680.5:c.2003A>T | ENSP00000445328.1:p.Asp668Val | |
| NM_006939.2:c.2102A>T | NP_008870.2:p.Asp701Val | |
| XM_005268021.1:c.1922A>T | XP_005268078.1:p.Asp641Val | |
| XM_011537103.1:c.2063A>T | XP_011535405.1:p.Asp688Val | |
| XM_011537104.1:c.2102A>T | XP_011535406.1:p.Asp701Val | |
| NM_006939.3:c.2102A>T | NP_008870.2:p.Asp701Val | |
| NM_006939.4:c.2102A>T MANE Select | NP_008870.2:p.Asp701Val |