Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922708T>A , CM000676.2:g.102922708T>A | GRCh38 |
| NC_000014.8:g.103389045T>A , CM000676.1:g.103389045T>A | GRCh37 |
| NC_000014.7:g.102458798T>A | NCBI36 |
| NG_008276.2:g.5053T>A , LRG_642:g.5053T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.20T>A MANE Select | ENSP00000299155.6:p.Val7Asp | |
| ENST00000299155.9:c.20T>A | ENSP00000299155.5:p.Val7Asp | |
| NM_030943.3:c.20T>A , LRG_642t1:c.20T>A | NP_112205.2:p.Val7Asp | |
| XM_011537202.1:c.-162T>A | XP_011535504.1:n.-162T>A | |
| XM_011537202.3:c.-162T>A | XP_011535504.1:n.-162T>A | |
| XM_024449714.1:c.116T>A | XP_024305482.1:p.Val39Asp | |
| NM_030943.4:c.20T>A MANE Select | NP_112205.2:p.Val7Asp |