Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63606317C>A , CM000679.2:g.63606317C>A | GRCh38 |
| NC_000017.10:g.61683677C>A , CM000679.1:g.61683677C>A | GRCh37 |
| NC_000017.9:g.59037409C>A | NCBI36 |
| NG_016979.1:g.10447C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682060.1:n.154C>A | ||
| ENST00000684587.1:c.389C>A | ENSP00000507435.1:p.Ser130Tyr | |
| ENST00000690765.1:c.*218C>A | ENSP00000510085.1:n.*218C>A | |
| ENST00000258975.7:c.392C>A MANE Select | ENSP00000258975.6:p.Ser131Tyr | |
| ENST00000258975.6:c.392C>A | ENSP00000258975.6:p.Ser131Tyr | |
| ENST00000581120.1:n.594C>A | ||
| NM_016360.3:c.392C>A | NP_057444.2:p.Ser131Tyr | |
| NM_016360.4:c.392C>A MANE Select | NP_057444.2:p.Ser131Tyr |