Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960992A>T , CM000670.2:g.19960992A>T | GRCh38 |
| NC_000008.10:g.19818503A>T , CM000670.1:g.19818503A>T | GRCh37 |
| NC_000008.9:g.19862783A>T | NCBI36 |
| NG_008855.1:g.26922A>T | |
| NG_008855.2:g.64276A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1231A>T MANE Select | ENSP00000497642.1:p.Ser411Cys | |
| ENST00000650478.1:c.171A>T | ENSP00000497560.1:n.171A>T | |
| ENST00000311322.8:c.1231A>T | ENSP00000309757.6:p.Ser411Cys | |
| NM_000237.2:c.1231A>T | NP_000228.1:p.Ser411Cys | |
| NM_000237.3:c.1231A>T MANE Select | NP_000228.1:p.Ser411Cys |