Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231691T>A , CM000667.2:g.55231691T>A | GRCh38 |
| NC_000005.9:g.54527519T>A , CM000667.1:g.54527519T>A | GRCh37 |
| NC_000005.8:g.54563276T>A | NCBI36 |
| NG_034201.1:g.7027A>T | |
| NG_051620.1:g.625A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.737A>T MANE Select | ENSP00000282572.4:p.Glu246Val | |
| ENST00000282572.4:c.737A>T | ENSP00000282572.4:p.Glu246Val | |
| ENST00000501463.2:c.*717A>T | ENSP00000422485.1:n.*717A>T | |
| NM_021147.4:c.737A>T | NP_066970.3:p.Glu246Val | |
| NR_125346.1:n.1307A>T | ||
| NR_125347.1:n.936A>T | ||
| NR_125348.1:n.801A>T | ||
| NM_021147.5:c.737A>T MANE Select | NP_066970.3:p.Glu246Val | |
| NR_125346.2:n.1198A>T | ||
| NR_125347.2:n.827A>T |