Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924259G>A , CM000675.2:g.27924259G>A | GRCh38 |
| NC_000013.10:g.28498396G>A , CM000675.1:g.28498396G>A | GRCh37 |
| NC_000013.9:g.27396396G>A | NCBI36 |
| NG_008183.1:g.9229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.410G>A MANE Select | ENSP00000370421.4:p.Gly137Asp | |
| ENST00000381033.4:c.410G>A | ENSP00000370421.4:p.Gly137Asp | |
| NM_000209.3:c.410G>A | NP_000200.1:p.Gly137Asp | |
| XR_941578.1:n.3537G>A | ||
| XR_941579.1:n.2136G>A | ||
| XR_941580.1:n.1052G>A | ||
| XR_941578.2:n.3549G>A | ||
| XR_941580.2:n.1064G>A | ||
| NM_000209.4:c.410G>A MANE Select | NP_000200.1:p.Gly137Asp |