Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411043T>A , CM000677.2:g.48411043T>A | GRCh38 |
| NC_000015.9:g.48703240T>A , CM000677.1:g.48703240T>A | GRCh37 |
| NC_000015.8:g.46490532T>A | NCBI36 |
| NG_008805.2:g.239746A>T , LRG_778:g.239746A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1371A>T | ENSP00000453958.2:n.*1371A>T | |
| ENST00000682158.1:n.1944A>T | ||
| ENST00000682170.1:n.2744A>T | ||
| ENST00000682767.1:n.1860A>T | ||
| ENST00000316623.10:c.8563A>T MANE Select | ENSP00000325527.5:p.Ser2855Cys | |
| ENST00000316623.9:c.8563A>T | ENSP00000325527.5:p.Ser2855Cys | |
| ENST00000559133.5:c.3932A>T | ||
| NM_000138.4:c.8563A>T , LRG_778t1:c.8563A>T | NP_000129.3:p.Ser2855Cys | |
| NM_000138.5:c.8563A>T MANE Select | NP_000129.3:p.Ser2855Cys |