Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312678C>T , CM000673.2:g.118312678C>T | GRCh38 |
| NC_000011.9:g.118183393C>T , CM000673.1:g.118183393C>T | GRCh37 |
| NC_000011.8:g.117688603C>T | NCBI36 |
| NG_007383.1:g.13099C>T , LRG_38:g.13099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.164C>T MANE Select | ENSP00000354566.4:p.Ser55Phe | |
| ENST00000361763.8:c.164C>T | ENSP00000354566.4:p.Ser55Phe | |
| ENST00000526146.5:n.710C>T | ||
| ENST00000528435.5:n.717C>T | ||
| ENST00000528600.1:c.146C>T | ENSP00000433975.1:p.Ser49Phe | |
| ENST00000529713.5:n.270C>T | ||
| ENST00000531913.1:n.535C>T | ||
| NM_000733.3:c.164C>T , LRG_38t1:c.164C>T | NP_000724.1:p.Ser55Phe | |
| NM_000733.4:c.164C>T MANE Select | NP_000724.1:p.Ser55Phe |