Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43048400A>T , CM000677.2:g.43048400A>T | GRCh38 |
| NC_000015.9:g.43340598A>T , CM000677.1:g.43340598A>T | GRCh37 |
| NC_000015.8:g.41127890A>T | NCBI36 |
| NG_012182.1:g.62689T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.1531T>A MANE Select | ENSP00000290650.4:p.Cys511Ser | |
| ENST00000290650.8:c.1531T>A | ENSP00000290650.4:p.Cys511Ser | |
| ENST00000546274.6:c.1531T>A | ENSP00000477932.1:p.Cys511Ser | |
| ENST00000563239.1:c.*203-1111T>A | ENSP00000456502.1:n.*203-1111T>A | |
| ENST00000569971.5:c.402T>A | ENSP00000455759.1:n.402T>A | |
| NM_174916.2:c.1531T>A | NP_777576.1:p.Cys511Ser | |
| NM_174916.3:c.1531T>A MANE Select | NP_777576.1:p.Cys511Ser |