Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176981A>T , CM000678.2:g.176981A>T | GRCh38 |
| NC_000016.9:g.226980A>T , CM000678.1:g.226980A>T | GRCh37 |
| NC_000016.8:g.166980A>T | NCBI36 |
| NG_000006.1:g.37844A>T | |
| NG_059186.1:g.5331A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.148A>T MANE Select | ENSP00000322421.5:p.Ser50Cys | |
| ENST00000397797.1:c.52A>T | ENSP00000380899.1:p.Ser18Cys | |
| ENST00000472694.1:n.284A>T | ||
| ENST00000487791.1:n.117A>T | ||
| NM_000558.4:c.148A>T | NP_000549.1:p.Ser50Cys | |
| NM_000558.5:c.148A>T MANE Select | NP_000549.1:p.Ser50Cys |